Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia

Swati Singh, Hitesh Shah, Ashwin Dalal, Anju Shukla, Gandham Sri Lakshmi Bhavani, Katta M. Girisha

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Article numbere63601
JournalAmerican Journal of Medical Genetics, Part A
Volume194
Issue number8
DOIs
Publication statusPublished - 08-2024

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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