A typical Say-Barber-Biesecker/Young-Simpson syndrome caused by heterozygous mutation of KAT6B gene
10.3760/cma.j.cn101070-20200211-00140
- VernacularTitle:KAT6B基因杂合突变导致典型Say-Barber-Biesecker/Young-Simpson综合征1例
- Author:
Jing LIU
1
;
Zhuo LI
;
Zhengjun JIA
;
Yanling TENG
;
Hui XI
;
Hua WANG
Author Information
1. 湖南省妇幼保健院医学遗传科，国家卫生健康委出生缺陷研究与预防重点实验室，长沙 410008
- Keywords:
Say-Barber-Biesecker/Young-Simpson Syndrome;
KAT6B gene;
Global developmental delay;
High throughout sequencing
- From:
Chinese Journal of Applied Clinical Pediatrics
2021;36(17):1349-1351
- CountryChina
- Language:Chinese
-
Abstract:
A patient with global developmental delay and facial abnormality treated in Hunan Maternal and Child Health Care Hospital in September 2018 was diagnosed as a typical Say-Barber-Biesecker/Young-Simpson syndrome (SBBYSS)accompanied with comprehensive clinical manifestations and genetic testing was carried out.The patient carries a heterozygous synonymous mutation of KAT6B gene (NM_012330.3)c.3147G>A (p.P1049P), thus leading to the formation of a new cleavage site (receptor) and forming a new truncated protein.In Chinese, this is the second typical SBBYSS that has been identified and the first prenatal genetic diagnosis has been performed.This study has broadened the mutation spectrum of SBBYSS caused by the mutation of KAT6B gene in Chinese population.
