All individuals with variants in gene CHST14

33 entries on 1 page. Showing entries 1 - 33.
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00291189 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00301626 Fam1P1 PubMed: Syx 2015 - M yes - Asia - - - - EDS see paper; ..., large fontanel; blue sclerae; telecanthus/hypertelorism; down‐slanting palpebral fissures; no short palpebral fissures; no short nose with hypoplastic columella; long philtrum; thin upper lip vermilion; no palatal abnormalities; small mouth; microretrognathia; midfacial hypoplasia; ear deformities; no flexed/adducted thumbs; talipes equinovarus; joint hypermobility; muscular hypotonia; kyphoscoliosis; tapering fingers / toes; joint dislocations; no pectus deformity; congenital hip dislocation; hyperextensible skin; thin, fragile, transparent skin; easy bruising; large, subcutaneous haematoma; atrophic scarring; no delayed wound healing; fine palmar creases; no myopia; retinal detachment; no microcornea; no neurologic abnormalities; cardiovascular abnormalities; valvular abnormality; kidney abnormalities; hydronephrosis; bowel dysfunction; cryptorchidism; hernia; no hearing abnormalities 1 1 Sofie Symoens
00301627 Fam2P2 PubMed: Syx 2015 - F no - Curacao - - - - EDS see paper; ..., blue sclerae; telecanthus/hypertelorism; down‐slanting palpebral fissures; no short palpebral fissures; short nose with hypoplastic columella; no long philtrum; no thin upper lip vermilion; no palatal abnormalities; no small mouth; no microretrognathia; midfacial hypoplasia; ear deformities; no flexed/adducted thumbs; talipes equinovarus; contractures fingers; no joint hypermobility; muscular hypotonia; kyphoscoliosis; tapering fingers / toes; joint dislocations; no pectus deformity; hyperextensible skin; thin, fragile, transparent skin; easy bruising; large, subcutaneous haematoma; atrophic scarring; delayed wound healing; fine palmar creases; no myopia; no retinal detachment; microcornea; no cardiovascular abnormalities; no kidney abnormalities; bowel dysfunction; no hearing abnormalities 1 1 Sofie Symoens
00301628 Fam3P3 PubMed: Syx 2015 - M yes Morocco - - - - - EDS see paper; ..., large fontanel; blue sclerae; telecanthus/hypertelorism; down‐slanting palpebral fissures; short palpebral fissures; short nose with hypoplastic columella; no long philtrum; thin upper lip vermilion; palatal abnormalities; small mouth; microretrognathia; midfacial hypoplasia; ear deformities; multiple congenital contractures; flexed/adducted thumbs; talipes equinovarus; contractures fingers; hyperextensible skin; thin, fragile, transparent skin; easy bruising; no atrophic scarring; no delayed wound healing; fine palmar creases; no myopia; no retinal detachment; no microcornea; neurologic abnormalities; ventricular defect; hypoplasia septum pellucidum; Dandy‐Walker anomaly; no cardiovascular abnormalities; kidney abnormalities; hydronephrosis; bowel dysfunction; cryptorchidism; hernia; hearing abnormalities 1 1 Sofie Symoens
00301629 Fam4P4 PubMed: Syx 2015 2-generation family, 2 affected brothers. This patient has an affected brother (AN_001991) who is homozygous for the same variant. M yes - Asia - - - - EDS see paper; ..., blue sclerae; telecanthus/hypertelorism; down‐slanting palpebral fissures; short palpebral fissures; no short nose with hypoplastic columella; long philtrum; no thin upper lip vermilion; palatal abnormalities; small mouth; microretrognathia; midfacial hypoplasia; ear deformities; no flexed/adducted thumbs; talipes equinovarus; contractures fingers; joint hypermobility; kyphoscoliosis; tapering fingers / toes; joint dislocations; congenital hip dislocation; hyperextensible skin; large, subcutaneous haematoma; atrophic scarring; fine palmar creases; myopia; retinal detachment; microcornea; no cardiovascular abnormalities; cryptorchidism 1 2 Sofie Symoens
00301630 Fam4P5 PubMed: Syx 2015 - M yes - Asia - - - - EDS see paper; ..., blue sclerae; telecanthus/hypertelorism; down‐slanting palpebral fissures; short palpebral fissures; no short nose with hypoplastic columella; long philtrum; no thin upper lip vermilion; palatal abnormalities; small mouth; microretrognathia; midfacial hypoplasia; ear deformities; no flexed/adducted thumbs; talipes equinovarus; contractures fingers; joint hypermobility; kyphoscoliosis; tapering fingers / toes; joint dislocations; congenital hip dislocation; hyperextensible skin; large, subcutaneous haematoma; atrophic scarring; fine palmar creases; myopia; microcornea; cardiovascular abnormalities; atrial septum defect; cryptorchidism; hearing abnormalities 1 1 Sofie Symoens
00319464 Family 12 PubMed: Alazami et al., 2016 There are two affected individuals in this family.The formal ID for this family is 12DG0445.The technique used was whole exome sequencing. - - - - - - - - EDS, EDSMC - 1 1 Raymond Dalgleish
00319465 Family1 PubMed: Malfait et al., 2010 There are two affected siblings in this family. - - Turkey Turkish - - - - EDS, EDSMC1 - 1 1 Raymond Dalgleish
00319466 Family 3 PubMed: Dündar et al., 2009 The variant in this family is incorrectly described as c.145_146delG. Three individuals were reported to carry the variants and phenotype in this family. This family has been previously described by {PMID9084938:Dündar et al., 1997}. - - Turkey Turkish - - - - EDS, EDSMC1 - 1 1 Raymond Dalgleish
00319467 - PubMed: Voermans et al., 2012 The variant is incorrectly presented in the paper, but the true variant details have been confirmed with the authors. A corrigendum has been submitted to the journal. - - - - - - - - EDS, EDSMC1 - 1 1 Raymond Dalgleish
00319468 F4-II1 PubMed: Miyake et al., 2010 This patient was previuosly described by PubMed: Yasui et al., 2003. - - Japan Japanese - - - - EDS, EDSMC1 - 2 1 Raymond Dalgleish
00319469 Family 2 PubMed: Dündar et al., 2009 This family was previously reported by PubMed: Dündar et al., 2001. Four individuals were reported in this family as carrying the variants and phenotype. - - Turkey Turkish - - - - EDS, EDSMC1 - 2 1 Raymond Dalgleish
00319470 P1/I PubMed: Janecke et al., 2016 This family was first reported in PubMed: Steinmann et al., 1975. The patient has a sibling (P2/I) who also carries the variants and phenotype, and 2 healthy younger brothers. - - Pakistan Pakistani - - - - EDS, EDSMC - 1 1 Raymond Dalgleish
00319471 Patient 2 PubMed: Shimizu et al., 2011 This patient is also referred to as Family 8, Patient 8 in tables I and II. They were originally diagnosed with EDS Kosho Type. - - Japan Japanese - - - - EDS, EDSMC1 - 2 1 Raymond Dalgleish
00319472 - PubMed: Kono et al., 2016 - - - Japan Japanese - - - - EDS, EDSMC - 2 1 Raymond Dalgleish
00319473 Family 1 PubMed: Dündar et al., 2009 This family was previously described by PubMed: Janecke et al., 2001. - - Austria Austrian - - - - EDS, EDSMC1 - 1 1 Raymond Dalgleish
00319474 P3/II PubMed: Janecke et al., 2016 - - - - Hispanic - - - - EDS, EDSMC - 1 1 Raymond Dalgleish
00319475 - PubMed: Winters et al., 2012 The published account incorrectly describes the variant at the protein level.The patient was previously misdiagnosed as having Marden-Walker syndrome. - - - Miccosukee - - - - EDS, EDSMC1 - 1 1 Raymond Dalgleish
00319476 P6/IV PubMed: Janecke et al., 2016 The patient has an affected brother who also carries the same variants. Their parents are heterozygous for the variants. - - - Hispanic - - - - EDS, EDSMC - 1 1 Raymond Dalgleish
00319477 Patient 1 PubMed: Mendoza-Londono et al., 2012 The patient has a sister who is also homozygous for the mutation. - - Afghanistan Afghani - - - - EDS, EDSMC - 1 1 Raymond Dalgleish
00319478 F2-II3 PubMed: Miyake et al., 2010 This patient was previously described by PubMed: Kosho et al., 2005. - - Japan Japanese - - - - EDS, EDSMC1 - 1 1 Raymond Dalgleish
00319479 F3-II1 PubMed: Miyake et al., 2010 - - - Japan Japanese - - - - EDS, EDSMC1 - 1 1 Raymond Dalgleish
00319480 F6-II1 PubMed: Miyake et al., 2010 - - - Japan Japanese - - - - EDS, EDSMC1 - 2 1 Raymond Dalgleish
00319481 F1-II1 PubMed: Miyake et al., 2010 This patient has previously been described by PubMed: Kosho et al., 2005. - - Japan Japanese - - - - EDS, EDSMC1 - 2 1 Raymond Dalgleish
00319482 F5-II1 PubMed: Miyake et al., 2010 - - - Japan Japanese - - - - EDS, EDSMC1 - 2 1 Raymond Dalgleish
00319483 Patient 1 PubMed: Shimizu et al., 2011 This patient is also referred to as Family 7, Patient 7 in tables I and II. They were originally diagnosed with EDS Kosho Type. - - Japan Japanese - - - - EDS, EDSMC1 - 2 1 Raymond Dalgleish
00319484 - PubMed: Mochida et al., 2016 - - - Japan Japanese - - - - EDS, EDSMC1 - 1 1 Raymond Dalgleish
00319485 Family 4 PubMed: Dündar et al., 2009 This family was previously described by PubMed: Sonoda and Kouno, 2000. Two brothers were reported to carry the variants and phenotype. - - Japan Japanese - - - - EDS, EDSMC1 - 1 1 Raymond Dalgleish
00319486 P4/III PubMed: Janecke et al., 2016 The patient has a younger brother (P5/III) who also carries the variants and phenotype. Their mother was heterozygous for the variant, and DNA from the father was unavailable for analysis. - - - Hispanic - - - - EDS, EDSMC - 1 1 Raymond Dalgleish
00319487 Family 2 PubMed: Malfait et al., 2010 - - - India Indian - - - - EDS, EDSMC1 - 1 1 Raymond Dalgleish
00331359 10DG0445, 10DG0446 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - skeletal dysplasia Intellectual disability, Hearing impairment, Ectrodactyly, Joint laxity 1 2 LOVD
00361601 10DG0445 PubMed: Anazi 2017 familial F yes Saudi Arabia - - - - - ID syndromic; intellectual disability, hearing impairment, cleft foot, hyperlaxity 1 1 Johan den Dunnen
00428047 1 PubMed: Sandal et al., 2018 - M yes India - - - - - EDSMC Bilateral hydronephrosis with bilateral pelviureteric junction obstruction (right >left). Facial dysmorphism, bilateral cryptorchidism. Bilateral talipes equinovarus. 1 1 Oumaima Nehaili
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