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Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia.

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.

SUBMITTER: Singh S

PROVIDER: S-EPMC7616131 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature

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Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia.

Singh Swati S Shah Hitesh H Dalal Ashwin A Shukla Anju A Bhavani Gandham SriLakshmi GS Girisha Katta M KM

American journal of medical genetics. Part A 20240402 8

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 s ...[more]

PMID: 38562122

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