期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 185, 期 3, 页码 743-752出版社
WILEY
DOI: 10.1002/ajmg.a.62030
关键词
ADAMTSL2 gene; autosomal dominant transmission; Ehlers‐ Danlos syndrome (EDS); hypermobility and tissue fragility; next‐ generation sequencing (NGS); protein modeling
资金
- National Institute of Child Health and Human Development (NICHD) [HD02528]
- National Library of Medicine [K01LM012870]
Ehlers-Danlos syndrome is a group of genetically inherited connective tissue disorders, including the dermatosparaxic EDS subtype. Researchers reported several patients with a variant in the ADAMTSL2 gene, showing autosomal dominant inheritance with positive family history. Clinical features of these patients include joint hypermobility and fragility of internal and external tissues.
Ehlers-Danlos syndrome (EDS) consists of a heterogeneous group of genetically inherited connective tissue disorders. A family with three affected members over two generations with features of Dermatosparaxic EDS (dEDS) autosomal dominant transmission was reported by Desai et al. and having a heterozygous nonsynonymous missense variant of ADAMTSL2 (c.1261G > A; p. Gly421Ser). Variation in this gene is also reported to cause autosomal recessive geleophysic dysplasia. We report five unrelated patients with the Gly421Ser variant identified from a large series of patients presenting with features of connective tissue disorders, each with a positive family history consistent with autosomal dominant transmission. Clinical features of a connective tissue disorder included generalized joint hypermobility and pain with fragility of internal and external tissues including of skin, dura, and arteries. Overall, our analyses including bioinformatics, protein modeling, and gene-protein interactions with the cases described would add evidence for the Gly421Ser variant in ADAMTSL2 as causative for variable expressivity of autosomal dominant connective tissue disorders.
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