All individuals with variants in gene DSE

17 entries on 1 page. Showing entries 1 - 17.
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00293961 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 190 Mohammed Faruq
00293962 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 97 Mohammed Faruq
00301625 FamPat1 PubMed: Müller 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes India - - - - - EDS see paper; ..., facial dysmorphism, frontal bossing, open anterior fontanelle, downward-slanting palpebral fissures, telecanthus, bluish sclerae, high arched palate, tent-shaped lips, dental crowding, brachycephaly, prominent ears; arachnodactyly, adducted thumbs, joint hyperlaxity, inguinal hernia, congenital bilateral talipes equino varus; hypermobility finger, elbow, and knee joints; tendency to atrophic scarring skin 1 1 Johan den Dunnen
00301631 P6 PubMed: Syx 2015 2-generation family, 2 affected sisters (2F) F no Spain - - - - - EDS see paper; ..., blue sclerae; telecanthus/hypertelorism; down‐slanting palpebral fissures; short palpebral fissures; short nose with hypoplastic columella; no long philtrum; thin upper lip vermilion; small mouth; midfacial hypoplasia; ear deformities; no flexed/adducted thumbs; talipes equinovarus; contractures fingers; muscular hypotonia; no kyphoscoliosis; tapering fingers / toes; hyperextensible skin; thin, fragile, transparent skin; easy bruising; large, subcutaneous haematoma; fine palmar creases; cardiovascular abnormalities; valvular abnormality 1 2 Sofie Symoens
00301632 P7 PubMed: Syx 2015 - F no Spain - - - - - EDS see paper; ..., blue sclerae; telecanthus/hypertelorism; down‐slanting palpebral fissures; short palpebral fissures; short nose with hypoplastic columella; long philtrum; thin upper lip vermilion; small mouth; midfacial hypoplasia; ear deformities; no flexed/adducted thumbs; talipes equinovarus; contractures fingers; muscular hypotonia; kyphoscoliosis; tapering fingers / toes; hyperextensible skin; thin, fragile, transparent skin; easy bruising; large, subcutaneous haematoma; fine palmar creases; no cardiovascular abnormalities; hernia 1 1 Sofie Symoens
00305051 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00319816 Patient 18 PubMed: Ranza 2017 The patient initially had an unknown clinical diagnosis, and was reclassified due to the discovery of the variants. The technique used was whole exome sequencing. - - Morocco Moroccan - - - - EDS, EDSMC - 1 1 Raymond Dalgleish
00319817 Patient 1 PubMed: Lautrup 2020 The patient's urine sample was analysed, showing a lack of dermatan sulfate dissacharide. The patient was born of consanguineous parents. - - Turkey Turkish - - - - EDS, EDSMC - 1 1 Raymond Dalgleish
00319818 Patient 2 PubMed: Lautrup 2020 The patient has an older brother (Patient 3) who also carries the same variants and displays the phenotype. They were born of consanguineous parents. - - India Indian - - - - EDS, EDSMC - 1 1 Raymond Dalgleish
00319819 Patient 1 PubMed: Schirwani 2020 The variant is presumed to be a true homozygote, but sequencing of the patient's parents was not feasible. The technique used was whole exome sequencing. - - Portugal Portuguese - - - - EDS, EDSMC - 1 1 Raymond Dalgleish
00319820 Patient 2 PubMed: Schirwani 2020 The variant is predicted by in silico analysis to be damaging at a highly conserved amino acid, but there is no functional evidence. The technique used was the custom exome panel. - - Pakistan Pakistani - - - - EDS, EDSMC - 1 1 Raymond Dalgleish
00403161 FamPatV1 PubMed: Ullah 2021 5-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - EDS small mouth/micro-retrognathia (infancy); hypertelorism; down-slanting palpebral fissures; broad tall nasal bridge; long philtrum and/or thin upper lip vermilion; no congenital multiple contractures; talipes equinovarus; no spinal deformities; long slender fingers; joint hypermobility; feet surgery performed; no skin hyperextensibility; no skin bruisability; no skin fragility; no atrophic scars skin; mild hypertropia; no hearing impairment; no hypotonia; no motor developmental delay 1 5 Johan den Dunnen
00403162 FamPatV2 PubMed: Ullah 2021 sister of PatV1 F yes Pakistan - - - - - EDS small mouth/micro-retrognathia (infancy); hypertelorism; down-slanting palpebral fissures; broad tall nasal bridge; long philtrum and/or thin upper lip vermilion; no congenital multiple contractures; talipes equinovarus; no spinal deformities; long slender fingers; joint hypermobility; feet surgery performed; no skin hyperextensibility; no skin bruisability; no skin fragility; no atrophic scars skin; mild hypertropia; no hearing impairment; no hypotonia; no motor developmental delay 1 1 Johan den Dunnen
00403163 FamPatV3 PubMed: Ullah 2021 brother of PatV1 M yes Pakistan - - - - - EDS small mouth/micro-retrognathia (infancy); hypertelorism; down-slanting palpebral fissures; broad tall nasal bridge; long philtrum and/or thin upper lip vermilion; no congenital multiple contractures; talipes equinovarus; no spinal deformities; long slender fingers; joint hypermobility; feet surgery performed; no skin hyperextensibility; no skin bruisability; no skin fragility; no atrophic scars skin; mild hypertropia; no hearing impairment; no hypotonia; no motor developmental delay 1 1 Johan den Dunnen
00403164 FamPatV4 PubMed: Ullah 2021 niece of PatV1 F yes Pakistan - - - - - EDS small mouth/micro-retrognathia (infancy); hypertelorism; broad tall nasal bridge; long philtrum and/or thin upper lip vermilion; no congenital multiple contractures; talipes equinovarus; no spinal deformities; long slender fingers; joint hypermobility; feet surgery performed; no skin hyperextensibility; no skin bruisability; no skin fragility; no atrophic scars skin; mild hypertropia; no hearing impairment; no hypotonia; no motor developmental delay 1 1 Johan den Dunnen
00403165 FamPatV5 PubMed: Ullah 2021 sister of PatV4 F yes Pakistan - - - - - EDS small mouth/micro-retrognathia (infancy); hypertelorism; broad tall nasal bridge; long philtrum and/or thin upper lip vermilion; no congenital multiple contractures; talipes equinovarus; no spinal deformities; long slender fingers; joint hypermobility; feet surgery performed; no skin hyperextensibility; no skin bruisability; no skin fragility; no atrophic scars skin; mild hypertropia; no hearing impairment; no hypotonia; no motor developmental delay 1 1 Johan den Dunnen
00411553 patient PubMed: Minatogawa 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents (2nd cousins) M yes Japan - - - - - EDSMC2 see paper 1 1 Tomoki Kosho
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