Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia
Document Type
Article
Publication Title
American Journal of Medical Genetics, Part A
Abstract
Biallelic variants in RSPRY1 have been found to result in spondyloepimetaphyseal dysplasia. Two siblings presenting with short stature, facial dysmorphism, progressive vertebral defects, small epiphysis, cupping and fraying of metaphyses, brachydactyly, and short metatarsals harbored a homozygous missense variant c.1652G>A;p.(Cys551Tyr) in the RSPRY1 gene. The phenotype in our patients resembles spondyloepimetaphyseal dysplasia, Faden-Alkuraya type. Thus, our study provides further evidence to support the association of RSPRY1 variants with spondyloepimetaphyseal dysplasia. We observed joint dislocation as a novel clinical feature of this condition.
DOI
10.1002/ajmg.a.63601
Publication Date
8-1-2024
Recommended Citation
Singh, Swati; Shah, Hitesh; Dalal, Ashwin; and Shukla, Anju, "Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia" (2024). Open Access archive. 10228.
https://impressions.manipal.edu/open-access-archive/10228
