Clinical and molecular genetic analysis of a child with comorbid 16p11.2 microdeletion syndrome and Rett syndrome
10.3760/cma.j.cn511374-20230403-00185
- VernacularTitle:16p11.2微缺失综合征伴发Rett综合征1例患儿的临床及分子遗传学分析
- Author:
Pengwu LIN
1
;
Xuan FENG
;
Shengju HAO
;
Chunyang JIA
;
Hairui PAN
;
Chuan ZHANG
;
Ling HUI
;
Qinghua ZHANG
Author Information
1. 甘肃省妇幼保健院/甘肃省中心医院医学遗传学中心 甘肃省出生缺陷与罕见病临床医学研究中心，兰州 730050
- Keywords:
Chromosome;
16p11.2 microdeletion syndrome;
Rett syndrome;
Whole exome sequencing;
MECP2 gene
- From:
Chinese Journal of Medical Genetics
2024;41(5):612-616
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic characteristics of a child with comorbid 16p11.2 microdeletion syndrome and Rett syndrome (RTT).Methods:A male infant who was admitted to Gansu Provincial Maternity and Child Health Care Hospital in May 2020 was selected as the study subject. Clinical data of the infant was collected. Genomic DNA was extracted from peripheral blood samples from the infant and his parents, and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.Result:The patient, a 4-day-old male infant, had presented with poor response, poor intake, feeding difficulties, and deceased at 8 months after birth. WES revealed that he has harbored a 0.643 Mb deletion in the 16p11.2 region, which encompassed key genes of the 16p11.2 microdeletion syndrome such as ALDOA, CORO1A, KIFF22, PRRT2 and TBX6. His father has carried the same deletion, but was phenotypically normal. The deletion was predicted to be pathogenic. The child was also found to harbor a maternally derived c. 763C>T (p.R255X) hemizygous variant of the MECP2 gene, which was also predicted to be pathogenic (PVS1+ PS4+ PM2_Supporting). Conclusion:The 16p11.2 deletion and the MECP2: c.763C>T (p.R255X) variant probably underlay the pathogenesis in this infant.
