In:
Journal of Pediatric Genetics, Georg Thieme Verlag KG, Vol. 09, No. 02 ( 2020-06), p. 117-120
Abstract:
Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited autosomal dominant and recessive skeletal dysplasia caused by both heterozygous and homozygous pathogenic variants in COL11A2 encoding the α2(XI) collagen chains, a part of type XI collagen. Here, we describe a 2-year-old girl presenting from birth with a phenotype suggestive of OSMED. On whole exome sequence analysis of the family via commercially available methods, we detected two novel heterozygous pathogenic variants in the proband. In addition, we reviewed the phenotype of autosomal recessive OSMED cases with COL11A2 pathogenic variants reported to date and quantitatively highlighted the phenotypic spectrum.
Type of Medium:
Online Resource
ISSN:
2146-4596
,
2146-460X
DOI:
10.1055/s-0039-1698446
Language:
English
Publisher:
Georg Thieme Verlag KG
Publication Date:
2020
detail.hit.zdb_id:
2660767-0
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