Pedigree study and analysis of ATP7A gene variants in three children with Menkes disease.
10.3760/cma.j.cn511374-20200216-00083
- Author:
Xiaoli LI
1
;
Tianming JIA
;
Xiaoli ZHANG
;
Ling GAN
;
Qiliang GUO
;
Xiao LI
Author Information
1. Department of Pediatric Neurology, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. jtm226@sina.com.
- Publication Type:Journal Article
- MeSH:
Case-Control Studies;
Child;
Copper-Transporting ATPases/genetics*;
Exons;
Family Health;
High-Throughput Nucleotide Sequencing;
Humans;
Menkes Kinky Hair Syndrome/genetics*;
Mutation;
Pedigree
- From:
Chinese Journal of Medical Genetics
2021;38(2):108-111
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for three children with Menkes disease.
METHODS:The patients were subjected to next-generation sequencing (NGS) to detect potential variants of the ATP7A gene. Suspected variants were verified by Sanger sequencing of their family members and 200 healthy individuals. Multiplex ligation-dependent probe amplification (MLPA) was also carried out to detect potential deletions in their family members and 20 healthy individuals.
RESULTS:Variants of the ATP7A gene were detected in all of the three families, including a novel c.1465A>T nonsense variant in family 1, a novel c.3039_3043del frame-shifting variant in family 2, and deletion of exons 3 to 23 in family 3, which was reported previously. Based on the standards and guidelines of American College of Medical Genetics and Genomics, the c.1465A>T and c.3039_3043del variants of ATP7A gene were predicted to be likely pathogenic (PVS1+PM2).
CONCLUSION:Variants of the ATP7A gene may underlay the Menkes disease in the three children. Above findings have facilitated clinical diagnosis and enriched the spectrum of genetic variants of Menkes disease.
