Diagnosis of a child with Say-Barber-Biesecker-Young-Simpson syndrome due to variant of KAT6B gene.
10.3760/cma.j.cn511374-20210830-00705
- VernacularTitle:一例
KAT6B变异所致Say-Barber-Biesecker-Young-Simpson患儿的临床诊断
- Author:
Jing CHEN
1
;
Guanglei TONG
;
Yuchen WANG
;
Fuling YE
;
Lei SHI
;
Hong LI
Author Information
1. Department of Rehabilitative Medicine, Anhui Provincial Children's Hospital, Hefei, Anhui 230051, China. 2623115155@qq.com.
- Publication Type:Journal Article
- MeSH:
Female;
Humans;
Blepharophimosis/genetics*;
Blepharoptosis;
Genotype;
Histone Acetyltransferases;
Infant
- From:
Chinese Journal of Medical Genetics
2022;39(12):1370-1374
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the genotype and clinical phenotype of a 3-month-old female infant featuring unresponsiveness.
METHODS:The infant was subjected to genetic testing, and her clinical features were compared with syndromes associated with variants of the candidate gene.
RESULTS:The patient has featured long fingers, long and overlapped toes, musk-like face, blepharophimosis, ptosis, and lacrimal duct anomaly. She was found to harbor a heterozygous de novo variant NM_012330.3: c.3040C>T (p.Gln1014*) in exon 16 of the KAT6B gene. Her clinical phenotype and genotype have both conformed to Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS).
CONCLUSION:The child was diagnosed with SBBYSS syndrome due to the c.3040C>T (p.Gln1014*) variant of the the KAT6B gene. Discovery of the unique features has expanded the phenotypic spectrum of this syndrome.
