Clinical and genetic analysis of a child with Alazami syndrome due to compound heterozygous variants of LARP7 gene.
10.3760/cma.j.cn511374-20220610-00399
- Author:
Lin YUAN
1
;
Peng ZHAO
;
Qianqian SHENG
;
Weihang MU
;
Gang XU
;
Jian LIU
Author Information
1. Department of Rehabilitation, Tianjin Children's Hospital, Tianjin 300400, China. patrickzhao@163.com.
- Publication Type:Journal Article
- MeSH:
Female;
Humans;
Dwarfism/genetics*;
Exome Sequencing;
Intellectual Disability/genetics*;
Microcephaly;
Mothers;
Mutation;
Male;
Child
- From:
Chinese Journal of Medical Genetics
2023;40(7):860-864
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical phenotype and genetic basis of a child with Alazami syndrome (AS).
METHODS:A child who presented at Tianjin Children's Hospital on June 13, 2021 was selected as the study subject. The child was subjected to whole exome sequencing (WES), and candidate variants were verified by Sanger sequencing.
RESULTS:WES revealed that the child has harbored two frameshifting variants of the LARP7 gene, namely c.429_430delAG (p.Arg143Serfs*17) and c.1056_1057delCT (p.Leu353Glufs*7), which were verified by Sanger sequencing to be respectively inherited from his father and mother.
CONCLUSION:The compound heterozygous variants of the LARP7 gene probably underlay the pathogenesis in this child.
