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Pedigree study and analysis of ATP7A gene variants in three children with Menkes disease / 中华医学遗传学杂志
Article in Zh | WPRIM | ID: wpr-879533
Responsible library: WPRO
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.
Subject(s)
Full text: 1 Index: WPRIM Main subject: Pedigree / Case-Control Studies / Exons / Family Health / High-Throughput Nucleotide Sequencing / Copper-Transporting ATPases / Menkes Kinky Hair Syndrome / Mutation Type of study: Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Child / Humans Language: Zh Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article
Full text: 1 Index: WPRIM Main subject: Pedigree / Case-Control Studies / Exons / Family Health / High-Throughput Nucleotide Sequencing / Copper-Transporting ATPases / Menkes Kinky Hair Syndrome / Mutation Type of study: Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Child / Humans Language: Zh Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article