一名患有歌舞伎综合征的中国婴儿的新型突变：病例报告。

Novel mutation in a Chinese infant with Kabuki syndrome: A case report.

作者信息

Guo Hong-Xian, Li Bao-Wei, Hu Mei, Si Shao-Yan, Feng Kai

机构信息

Department of Paediatrics, Strategic Support Force Medical Center of PLA, Beijing 100101, China.

Department of ENT, Strategic Support Force Medical Center of PLA, Beijing 100101, China.

出版信息

World J Clin Cases. 2021 Nov 26;9(33):10257-10264. doi: 10.12998/wjcc.v9.i33.10257.

DOI:10.12998/wjcc.v9.i33.10257

PMID:34904097

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8638061/

Abstract

BACKGROUND

Kabuki syndrome (KS) is a rare syndrome characterized by multisystem congenital anomalies and developmental disorder. and mutations were identified as the main causative genes in KS patients. There are few case reports and genetic analyses, especially of gene mutation, in China.

CASE SUMMARY

This study reports a mutation in a Chinese infant with KS. A 2-month-old Chinese baby was diagnosed with KS, which manifested as hypoglycemia, congenital anal atresia at birth, feeding difficulties, hypotonia, and serious postnatal growth retardation. He died of recurrent respiratory infections at age 13 mo. DNA sequencing of his blood DNA revealed a novel frameshift mutation (c.704_705delAG, p. N236Sfs*26) (GRCh37/hg19).

CONCLUSION

We present a Chinese KS patient with a novel frameshift mutation (c.704_705delAG, p. N236Sfs*26) (GRCh37/hg19), broadening the mutation spectrum.

摘要

背景

歌舞伎综合征（KS）是一种罕见综合征，其特征为多系统先天性异常和发育障碍。和突变被确定为KS患者的主要致病基因。在中国，关于KS的病例报告和基因分析很少，尤其是关于基因突变的研究。

病例摘要

本研究报告了一名患有KS的中国婴儿的突变情况。一名2个月大的中国婴儿被诊断为KS，表现为低血糖、出生时先天性肛门闭锁、喂养困难、肌张力低下以及严重的出生后生长发育迟缓。他在13个月大时死于反复呼吸道感染。对其血液DNA进行的DNA测序揭示了一种新的移码突变（c.704_705delAG，p.N236Sfs*26）（GRCh37/hg19）。