Genetic diagnosis of a Chinese pedigree affected with Alazami syndrome.
10.3760/cma.j.cn511374-20210909-00735
- Author:
Fengjuan HE
1
;
Shenjian XU
;
Qiwen LI
;
Mengting JIANG
;
Xiuzhen MAO
Author Information
1. Prenatal Diagnostic Center, Suqian First Hospital Affiliated to Nanjing Medical University, Suqian, Jiangsu 223800, China. 3227405498@qq.com.
- Publication Type:Journal Article
- MeSH:
China;
Dwarfism;
Female;
Humans;
Intellectual Disability/genetics*;
Mutation;
Pedigree;
Ribonucleoproteins/genetics*;
Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2022;39(10):1089-1092
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic etiology for a Chinese pedigree affected with Alazami syndrome.
METHODS:Genomic DNA was extracted for 2 patients and 2 unaffected members from the pedigree. Whole exome sequencing was carried out to detect potential variant in the proband, and the result was verified by Sanger sequencing.
RESULTS:The proband and her sister were both found to harbor compound heterozygous variants of LARP7 gene, namely c.94A>T (p.Lys32*) and c.1141A>G (p.Lys381Glu), which were inherited from their father and mother, respectively. Both variants were predicted to be pathogenic based on bioinformatic analysis.
CONCLUSION:The two variants of the LARP7 gene, both were unreported previously, probably underlay the Alazami syndrome in this pedigree. Above finding has expanded the mutational spectrum of the LARP7 gene.
