Disease #00540 (EDSKSCL1 (Ehlers-Danlos syndrome, kyphoscoliotic type, 1), OMIM:225400)

Official abbreviation EDSKSCL1
Name Ehlers-Danlos syndrome, kyphoscoliotic type, 1
OMIM ID 225400
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 73
Phenotype entries for this disease 0
Associated with 1 gene PLOD1
Associated tissues -
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Remarks -


Individuals

73 entries on 1 page. Showing entries 1 - 73.
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00318044 - PubMed: Yeowell et al., 2000 The PLOD1 variants, c.169C>T and the 15-bp deletion at position c.1123_1137, are both incorrectly described in {PMID10686424:Yeowell et al., 2000}. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession M98252. The patient died at the age of 14 due to an arterial rupture.This patient is also described as Cell Line 716 by {PMID10874315:Yeowell et al., 2000}. - - - - - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 2 1 Raymond Dalgleish
00318045 - PubMed: Heikkinen et al., 1999 - - - United Kingdom (Great Britain) British - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 2 1 Raymond Dalgleish
00318046 P9 PubMed: Micha et al., 2019 - - - - - - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318047 P1 PubMed: van Dijk et al., 2017 - - - - - - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318048 P2 PubMed: Rohrbach et al., 2011 - - - Serbia Serbian - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318053 - PubMed: Yeowell et al., 2000 The PLOD1 variants are incorrectly described as 450T>A and 1003C>T in {PMID10874315:Yeowell et al., 2000}. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252. - - United States North American - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 2 1 Raymond Dalgleish
00318054 P10 PubMed: Rohrbach et al., 2011 The splice-site variant in this patient is predicted to result in skipping of exon 4. - - Spain Spanish - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318055 P8 PubMed: Micha et al., 2019 - - - - - - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 2 1 Raymond Dalgleish
00318056 - PubMed: Yeowell and Walker, 1997 The paternally inherited variant is incorrectly described as c.1557C>G in {PMID9220536:Yeowell and Walker, 1997}. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252.The patient's unaffected younger sibling was one of the first individuals to have a prenatal assessment of EDS VI by mutational anaylsis. This is reported in {PMID9893157:Yeowell and Walker, 1999}; the outcome of the assessment revealed the foetus had inherited the maternal allele containing the splice-site mutation and a normal non-mutated allele from the father. Although a carrier of this disease, the individual was born healthy.The patient is also described as cell line 996 by {PMID10874315:Yeowell et al., 2000}. - - - - - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 2 1 Raymond Dalgleish
00318057 Family 1 PubMed: Abdalla et al., 2015 The parents are first cousins. - - Egypt Egyptian - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318059 P2 PubMed: van Dijk et al., 2017 The technique used was the custom NGS Gene panel. - - - - - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 2 1 Raymond Dalgleish
00318060 - PubMed: Shin et al., 2020 Compound heterozygous variants resulting in a kyphoscoliotic EDS phenotype were found in two korean siblings. The technique used was the custom NGS Gene panel. - - Korea Korean - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 2 1 Raymond Dalgleish
00318061 - PubMed: Hyland et al., 1992 According to the pedigree in figure 3, the probands are actually the second (H.A.) and fourth (N.A.) children in the family, rather than the third and fifth, as reported. The parents are first cousins. - - - Turkish(?) - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318062 P6 PubMed: Giunta et al., 2005b Patient has consanguineous parents. The PLOD1 variant is incorrectly described as c.845C>T in {PMID15979919:Giunta et al., 2005b}. The correct variant description has been confirmed with the authors. - - - Arab - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318063 P1 PubMed: Giunta et al., 2005a The parents of P1 are first cousins. The PLOD1 variant is incorrectly described as c.954CGA>TGA in {PMID15666309:Giunta et al., 2005a}. - - - Arab - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318064 P2 PubMed: Giunta et al., 2005a The patient has first cousin parents. The mutation is incorrectly described as c.954CGA>TGA in {PMID15666309:Giunta et al., 2005a}. - - - Arab - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318065 P3 PubMed: Giunta et al., 2005a P3 has first cousin parents and is a second cousin to P2 in {PMID15666309:Giunta et al., 2005a}. The PLOD1 variant is incorrectly described as c.954CGA>TGA in the paper. - - - Arab - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318066 P4 PubMed: Giunta et al., 2005a The parents of P4 are first cousins. The PLOD1 variant is incorrectly described as c.954CGA>TGA in {PMID15666309:Giunta et al., 2005a}. The patient has also been previously reported as case 1 in {PMID9152832:al-Gazali et al., 1997}, with Nevo Syndrome. - - - Arab - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318067 P5 PubMed: Giunta et al., 2005a P5 is the first child of distantly related parents and has an affected sister reported as P6 in {PMID15666309:Giunta et al., 2005a}. The affected sibling harbours the same variant. There is variability in the phenotype as P6 is diagnosed with Nevo Syndrome.The PLOD1 variant is incorrectly described as c.954CGA>TGA in {PMID15666309:Giunta et al., 2005a}. The patient has also been previously reported as case 2 in {PMID9152832:al-Gazali et al., 1997}, with Nevo Syndrome. - - - Arab - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318068 - PubMed: Pajunen at al., 1998 The patient's parents are related by blood; the father and maternal grandfather of the patient are cousins.This patient was mentioned, in passing, in the introduction of {PMID8981946:Heikkinen et al., 1997}. - - - - - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318069 P1 PubMed: Giunta et al., 2005b P1 has consanguineous parents and also has a female sibling who is more severly affected. The PLOD1 variant is incorrectly described as c.1067_1846dup in {PMID15979919:Giunta et al., 2005b}. The actual variant details have been confirmed with the authors.The patient is clinically described as patient O.A.in {PMID9714013:Jarisch et al., 1998}. An affected sibling of the patient, M.A., is also described in {PMID9714013:Jarisch et al., 1998}. Both siblings are affected with both EDS VI and Cystic Fibrosis. - - Turkey Turkish - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318070 P3 PubMed: Giunta et al., 2005b The consanguinity of parents of the patient is unknown. The PLOD1 variant is incorrectly described as c.1067_1846dup in {PMID15979919:Giunta et al., 2005b}. The actual variant details have been confirmed with the authors. - - Albania Albanian - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318071 P2 PubMed: Giunta et al., 2005b The PLOD1 variant is incorrectly described as c.1067_1846dup in {PMID15979919:Giunta et al., 2005b}. The actual variant details have been confirmed with the authors. - - Germany German - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318072 P4 PubMed: Giunta et al., 2005b The patient has consanguineous parents. The PLOD1 variant is incorrectly described as c.1067_1846dup in {PMID15979919:Giunta et al., 2005b}. The actual variant details have been confirmed with the authors. - - Bosnia and Herzegovina Bosnian - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318073 P5 PubMed: Giunta et al., 2005b The paternal duplication variant was published by {PMID8981946:Heikkinen et al., 1997} (presumably as patient AB) whereas the maternal mutation remained undetectable at that time.The maternal variant is incorrectly described as c.1253delC in {PMID15979919:Giunta et al., 2005b}. The protein effect is also incorrect described in the same paper as p.Ile454IlefsX2. The paternal variant is incorrectly described as c.1067_1846dup in {PMID15979919:Giunta et al., 2005b}. The actual variant details have been confirmed with the authors. - - Bosnia and Herzegovina Bosnian - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 2 1 Raymond Dalgleish
00318074 - PubMed: Heikkinen et al., 1997 The parents of the patient are first cousins. There are two affected members in the family. - - Turkey Turkish - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318075 - PubMed: Heikkinen et al., 1997 The parents of the patient are first cousins. The patient has two clinically healthy sisters, of whom one was found to be a carrier for the duplicated allele in an enzyme assay reported in {PMID8981946:Heikkinen et al., 1997}. - - Iran Iranian - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318076 - PubMed: Heikkinen et al., 1997 There are two affected members in the family. - - United States American - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318077 - PubMed: Heikkinen et al., 1997 curated: RWMD 16/08/2011 - - Russia Russian - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318078 P1 PubMed: Brinckmann et al., 1998 The PLOD1 variant is incorrectly described as duplication of the nucleotide 1176-1955 in {PMID9617436:Brinckmann et al., 1998}. - - - - - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318079 P3 PubMed: Brinckmann et al., 1998 The patient was an adopted turkish girl. The mutation is incorrectly described as a duplication in the nucleotide 1176-1955 in {PMID9617436:Brinckmann et al., 1998}. - - Turkey Turkish - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318080 - PubMed: Yeowell et al., 2005 The patient is the first child of healthy consanguineous parents. The patient also suffers from cystic malformations of the meninges which is described in {PMID14872341:Brunk et al., 2004}. - - Turkey Turkish - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318082 - PubMed: Yeowell et al., 2000 The PLOD1 substitution variant is incorrectly described as 1557C>G in {PMID10874315:Yeowell et al., 2000}. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252. - - United States North American - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 2 1 Raymond Dalgleish
00318083 - PubMed: Pousi et al., 1994 This patient was originally analyzed and clinically described by {PMID4373475:Sussman et al., 1974}. This patient also has an affected brother, described as Case 2 in {PMID4373475:Sussman et al., 1974}. The patient is also mentioned subsequently by {PMID8981946:Heikkinen et al., 1997} clarifying the ethnic origin. - - United States white (American) - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318084 - PubMed: Heikkinen et al., 1997 - - - Germany German - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 2 1 Raymond Dalgleish
00318085 - PubMed: Hautala et al., 1993 The sister of the patient also harbours the same variant and she is described as GM01791 in {PMID8449506:Hautala et al., 1993}. The two siblings are also clinically reported in {PMID5016372:Pinnell et al., 1972} and {PMID4342967:Krane et al., 1972}. The father of the patients is of English-Irish ancestry and the mother is a mixture of Cherokee Indian, Welsh and Dutch. DNA from neither parent is available for study. In {PMID8449506:Hautala et al., 1993}, the nucleotide position of the variant is incorrectly described as 1176 to 1955. The patient is also mentioned subsequently by {PMID8981946:Heikkinen et al., 1997} giving the ethnic origin. - - United States American - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318086 - PubMed: Heikkinen et al., 1997 The sequence variant of PLOD1 gene in the other allele of the patient is unknown. - - United States American - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318087 P1 PubMed: Rohrbach et al., 2011 - - - Macedonia Macedonian - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318088 P4 PubMed: Rohrbach et al., 2011 - - - Turkey Turkish - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318089 Family 3 PubMed: Abdalla et al., 2015 The parents are first cousins. - - Egypt Egyptian - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318090 Family 4 PubMed: Abdalla et al., 2015 The parents are first cousins. - - Egypt Egyptian - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318092 - PubMed: Yeowell et al., 2000 The PLOD1 variant is incorrectly described as 1003C>T in {PMID10874315:Yeowell et al., 2000}. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252. - - United States North American - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318093 P9 PubMed: Rohrbach et al., 2011 - - - Turkey Turkish - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318094 - PubMed: Yeowell et al., 2000 The PLOD1 15-bp deletion and c.1095C>T variants are both incorrectly described in {PMID10686424:Yeowell et al., 2000}. This is due to incorrect use use of an alternative incomplete PLOD1 mRNA sequence: GenBank accession no. M98252.The c.1095C>T variant creates a cryptic splice site resulting in loss of the last 4 bases of exon 10 or skipping of exon 10.This patient is also described as Cell Line 959 by {PMID10874315:Yeowell et al., 2000}. - - - - - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 2 1 Raymond Dalgleish
00318095 P5 PubMed: Rohrbach et al., 2011 The c.1095C > T transition in exon 10 is expected to activate a cryptic splice site within exon 10 which would promote aberrant splicing, shift of the open reading frame and premature stop at codon 386. - - Turkey Turkish - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318096 - - The patient had a positive family history: her younger sister died at 9 years because of spontaneous abdominal aortic rupture. Urinary pyridinoline analysis showed a significantly increased lysyl-pyridinoline to hydroxylysyl-pyridinoline (LH/HP).The technique used was the custom NGS Gene panel. - - - white - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 2 1 Anne Legrand
00318098 - PubMed: Giunta et al., 2009 The unequal recombination ocurring between the two palindromic AGCT sequences are incorrectly described as ACGT in {PMID19320025:Giunta et al., 2009}. - - - - - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318100 P12 PubMed: Rohrbach et al., 2011 A personal communication from one of the authors reveals that the underlying cDNA-level variant is c.1255dup which implies that the published protein-level description of p.(Trp419Leufs*48) for the this patient is incorrect. - - Iraq Iraqi - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318101 - PubMed: Kariminejad et al., 2010. Iran J Pediatr 20(3):358-362 The patient is the first child of parents who are cousins once removed. This patient is the one reported by {PMID19320025:Giunta et al., 2009} as HM080082. - - Iran Iranian - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318102 - PubMed: Giunta et al., 2009 In {PMID19320025:Giunta et al., 2009}, the reference sequence (NM_000302.2) has been incorrectly described as NM_000303.2. Only one variant has been reported for this patient. - - - - - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318103 - PubMed: Walker et al., 2005 The patient is a daugther of consanguineous parents. The PLOD1 variant is incorrectly described as 1360T>G in {PMID15854030:Walker et al., 2005}. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252. - - Turkey Turkish - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318104 - PubMed: Yiş et al., 2008 The patient is the third child of consanguineous parents. The PLOD1 variant is incorrectly described as c.1360T>G by the authors. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession M98252. - - Turkey Turkish - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318105 P7 PubMed: Giunta et al., 2005b The consanguinity of parents of the patient is unknown. The PLOD1 variant is incorrectly described as c.1144delC in {PMID15979919:Giunta et al., 2005b}. The protein effect is also incorrect described in the same paper as p.Ile454IlefsX2. The actual variant details have been confirmed with the authors. - - Greece Greek - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318106 - PubMed: Salvoura et al., 2006 The patient's parents are probably related, although consanguinity was not mentioned. The protein effect is incorrect described in {PMID17100196:Salvoura et al., 2006} as p.Ile454fsX2. - - Albania Albanian - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318107 Patient IV:3 PubMed: Gok et al., 2012 The patient is the third child of non-consanguineous Turkish parents. He has two elder male siblings who did not display symptoms of kyphoscoliotic EDS. - - Turkey Turkish - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318110 P3 PubMed: Rohrbach et al., 2011 The c.1471-1G>A variant is predicted to create a cryptic splice site in exon 14 resulting in an out-of-frame deletion of the first 55 bp of exon 14 and a premature stop codon in exon 17. - - Iran Iranian - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318112 - PubMed: Pousi et al., 2000 The maternally inherited exon-14 PTC mutation also results in abnormal splicing with exon 14 being commonly skipped. This results in deletion of 38-amino acid deletion. The mutation on the paternal allele and how it causes low-level expression is still not known. - - United Kingdom (Great Britain) British - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318113 - PubMed: Walker et al., 1999 The father's DNA was unavailable for analysis. The mother was 14 years old when the patient was born. Although there is a high likelihood of consanguinity, the father has not been unequivocally identified. The PLOD1 variant is incorrectly described in {PMID10329027:Walker et al., 1999} as 1557C>G. This is due to incorrect use of an alternative PLOD1 mRNA sequnece: GenBank accession no. M98252. This patient is described in {PMID11001813:Yeowell et al., 2000} and also in {PMID10874315:Yeowell et al., 2000} as cell line 1122. - - - - - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318114 - PubMed: Yeowell et al., 2000 The PLOD1 variant is incorrectly described as 1557C>G in {PMID10874315:Yeowell et al., 2000}. This is due to incorrect use of an alternative PLOD1 mRNA sequnece: GenBank accession no. M98252. - - United States North American - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318115 - - - - - - white - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 2 1 Cecilia Giunta
00318116 - PubMed: Ha et al., 1994 The three-base deletion at positions 1618_1620 and the missense mutation at position 2056 are incorrectly described in {PMID8163671:Ha et al., 1994}. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252.The patient is also described in {PMID7646078:Yeowell et al., 1995} and again as cell line 750 in {PMID10874315:Yeowell et al., 2000}. - - Mexico Mexican-American - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 2 1 Raymond Dalgleish
00318118 P6 PubMed: Rohrbach et al., 2011 - - - Netherlands Dutch - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318119 P7 PubMed: Micha et al., 2019 The authors state that they a deep intronic variant is expected to have been missed in this patient. - - - - - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318120 - PubMed: Pousi et al.,1998 The parents of the patient are third-degree cousins but their consanguinity does not contribute to the disease of the patient. The patient has also been previously reported by {PMID429005:Krieg et al.,1979}. Another individual in the same family diagnosed with Ehlers-Danlos Syndrome Type VI is described by {PMID6432919:Ihme et al.,1984}. - - Germany German - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 2 1 Raymond Dalgleish
00318121 - PubMed: Yeowell et al., 2000 The PLOD1 variant has been incorrectly described as 1702insC in {PMID10874315:Yeowell et al., 2000}. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252. - - United States North American - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318122 P7 PubMed: Giunta et al., 2005a The parents of the patient are first cousins. The patient has also been previously described in {PMID8574422:Hilderink and Brunner, 1995}. - - Netherlands Dutch - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318123 P2 PubMed: Brinckmann et al., 1998 P2 (A.K.) is a compound heterozygote patient; the mutated paternal allele is speculated to be a null allele as only cDNA could be analysed. The maternally inherited variant is incorrectly described as c.2036G>C in {PMID9617436:Brinckmann et al., 1998}. - - - - - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318124 - PubMed: Tosun et al., 2014 The parents were cousins. - - - - - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318126 P8 PubMed: Giunta et al., 2005b The patient has consanguineous parents. The PLOD1 variant is incorrectly described as c.1890G>A in {PMID15979919:Giunta et al., 2005b}. The actual variant details has been confirmed with the authors. - - Italy Italian - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318127 Family 2 PubMed: Abdalla et al., 2015 The parents are first cousins.The premature stop codon in exon 18 does not trigger NMD. - - Egypt Egyptian - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318128 P7 PubMed: Rohrbach et al., 2011 - - - Somalia Somalian - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00318129 P9 PubMed: Giunta et al., 2005b P9 has a female sibling who is more severly affected and the consanguinity of their parents are unknown. The PLOD1 variant is incorrectly described as c.2008A>G in {PMID15979919:Giunta et al., 2005b}. The actual variant details has been confirmed with the authors. - - France French - 0 - - EDS, EDSKSCL1 - PLOD1 PLOD1 1 1 Raymond Dalgleish
00414790 - - - - - - - - - - - EDSKSCL1 - PLOD1 PLOD1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
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