A case of SBBYSS syndrome caused by KAT6B gene variant.
10.3760/cma.j.issn.1003-9406.2019.07.018
- VernacularTitle:KAT6B变异致SBBYSS综合征一例
- Author:
Nan LYU
1
;
Qing SHANG
;
Jingjie LI
;
Caiyun MA
;
Dongxiao LI
Author Information
1. Rehabilitation Center Children's Hospital Affiliated to Zhengzhou University, Children's Hospital of Henan Province, Zhengzhou Children's Hospital, Zhengzhou, Henan 450003, China. li_dongxiao@sina.com.
- Publication Type:Journal Article
- MeSH:
Blepharophimosis;
genetics;
Child;
Congenital Hypothyroidism;
genetics;
DNA Copy Number Variations;
Facies;
Female;
Heart Defects, Congenital;
genetics;
Histone Acetyltransferases;
genetics;
Humans;
Intellectual Disability;
genetics;
Joint Instability;
genetics;
Mutation;
Phenotype;
Pregnancy
- From:
Chinese Journal of Medical Genetics
2019;36(7):727-730
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical and molecular genetics features of a family affected with Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS).
METHODS:High-throughput sequencing was used to detect copy number variations (CNVs) and pathogenic variant within the whole exome of the affected child.
RESULTS:No pathogenic CNV was found in the child, while exome sequencing identified a heterozygous c.3367_c.3370delAGAA (p.Arg1123Argfs*6) frameshifting variant in the exon 16 of the KAT6B gene. The same variant was not found in either parent.
CONCLUSION:The c.3367_c.3370delAGAA (p.R1123Rfs*6) probably underlies the disease in the affected child. Above finding has facilitated genetic counseling and prenatal diagnosis for the family.
