All individuals with variants in gene CHST14

35 entries on 1 page. Showing entries 1 - 35.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
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 2016 There are two affected individuals in this family.The formal ID for this family is 12DG0445.The technique used was whole exome sequencing. - - Saudi Arabia - - - - - EDS, EDSMC skin and joint laxity, developmental delay, failure to thrive, short stature, dysmorphic features (wide forehead, severe malar hypoplasia, and saggy cheeks), strabismus, decreased hearing, easy bruising, scoliosis, bilateral TEV, arthrogryposis and decreased bone density 1 2 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
00457355 FamPat1 PubMed: Ks 2024 Two siblings with homozygous CHST14 variants and musculocontractural EDS. Skin biopsy showed a thinned-out dermis with loose collagen fibers, dilated capillaries, increase in fibroblasts, and absence of elastic fibers. F no India India-N - - - - EDSMC1 Delayed gross motor development (HP:0002194); joint hypermobility (HP:0001382); hyperextensible skin (HP:0000974); atrophic scars (HP:0001075); hip dislocation (HP:0002827); scoliosis (HP:0002650); myopia (HP:0000545); developmental glaucoma (HP:0001087); cutis laxa (HP:0000973); atrophic scars (HP:0001075); downslanted palpebral fissures (HP:0000494); hooded eyelid (HP:0030820); depressed nasal bridge (HP:0005280); broad nasal tip (HP:0000455); long philtrum (HP:0000343); protruding ears (HP:0000411); round face (HP:0000311); slender finger (HP:0001238); slender toe (HP:0011308); multiple joint contractures (HP:0002828). 1 2 Deepak Subramanian
00457442 FamPat2 PubMed: Ks 2024 sib M no India India-N - - - - EDSMC1 Delayed gross motor development (HP:0002194); joint hypermobility (HP:0001382); hyperextensible skin (HP:0000974); atrophic scars (HP:0001075); inguinal hernia (HP:0000023); bilateral cryptorchidism (HP:0008689); cutis laxa (HP:0000973); atrophic scars (HP:0001075); downslanted palpebral fissures (HP:0000494); hooded eyelid (HP:0030820); depressed nasal bridge (HP:0005280); broad nasal tip (HP:0000455); long philtrum (HP:0000343); protruding ears (HP:0000411); round face (HP:0000311); slender finger (HP:0001238); slender toe (HP:0011308); multiple joint contractures (HP:0002828). 1 1 Deepak Subramanian
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.