Clinical and genetic analysis of a patient with short stature due to variant of RPL13 gene
10.3760/cma.j.cn511374-20230329-00173
- VernacularTitle:RPL13基因变异致身材矮小1例患者的临床及遗传学分析
- Author:
Hanying WEN
1
;
Ke WU
;
Qingqing SHU
;
Xin HE
;
Qingxia XUE
Author Information
1. 衢州市妇幼保健院产前诊断中心，衢州 324000
- Keywords:
Short stature;
RPL13 gene;
Spondyloepimetaphyseal dysplasia
- From:
Chinese Journal of Medical Genetics
2024;41(5):586-590
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical phenotype and genetic characteristics of a patient with Isidor-Toutain spinal epiphyseal dysplasia (SEMD) due to variant of RPL13 gene. Methods:A pregnant woman at 18 weeks of gestation who had presented at Quzhou Maternal and Child Health Care Hospital on January 14, 2023 was selected as the study subject. Whole exome sequencing (WES) was carried out for the patient, and candidate variant was validated by Sanger sequencing and bioinformatic analysis.Results:The woman was 37 years old with extremely short stature (135 cm) and "O" shaped legs. WES revealed that she has harbored a c. 548G>C (p.Arg183Pro) missense variant of the RPL13 gene (NM_000977.4). The same variant was not found in her fetus. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be likely pathogenic (PS4+ PM2_Supporting+ PP3+ PP4). Conclusion:Isidor-Toutain type SEMD due to variants of the RPL13 gene may have variable expressivity and diverse clinical phenotypes. Above finding has facilitated the differential diagnosis and genetic counseling for this family.
