TY - JOUR
T1 - Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia
AU - Singh, Swati
AU - Shah, Hitesh
AU - Dalal, Ashwin
AU - Shukla, Anju
AU - Bhavani, Gandham Sri Lakshmi
AU - Girisha, Katta M.
N1 - Publisher Copyright:
© 2024 Wiley Periodicals LLC.
PY - 2024/8
Y1 - 2024/8
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85189826096&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85189826096&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.63601
DO - 10.1002/ajmg.a.63601
M3 - Article
C2 - 38562122
AN - SCOPUS:85189826096
SN - 1552-4825
VL - 194
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 8
M1 - e63601
ER -