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Genetic Diagnosis of Neuroacanthocytosis Disorders Using Exome Sequencing by Ruth H. Walker; Vincent P. Schulz; Irina R. Tikhonova; Milind C. Mahajan; Shrikant Mane; Maritza Arroyo Muniz; Patrick G. Gallagher is a Medicine article available to read on EtoBox.

What is Genetic Diagnosis of Neuroacanthocytosis Disorders Using Exome Sequencing about?

## Abstract Neuroacanthocytoses are neurodegenerative disorders marked by phenotypic and genetic heterogeneity. There are several associated genetic loci, and many defects, including gene deletions and insertions, and missense, nonsense, and splicing mutations, have been found spread over hundreds of kilobases of genomic DNA. In some cases, specific diagnosis is unclear, particularly in the early stages of disease or when there is an atypical presentation. Determination of the precise genetic defect allows assignment of the diagnosis and permits carrier detection and genetic counseling. The objective of this report was to utilize exome sequencing for genetic diagnosis in the neuroacanthocytosis syndromes. Genomic DNA from 2 patients with clinical features of chorea‐acanthocytosis was subjected to targeted exon capture. Captured DNA was subjected to ultrahigh throughput next‐generation sequencing. Sequencing data were assembled, filtered against known human variant genetic databases, and results were analyzed. Both patients were compound heterozygotes for mutations in the __VPS13A__ gene, the gene associated with chorea‐acanthocytosis. Patient 1 had a 4‐bp deletion that removes the

Who reads Genetic Diagnosis of Neuroacanthocytosis Disorders Using Exome Sequencing?

Author

Ruth H. Walker; Vincent P. Schulz; Irina R. Tikhonova; Milind C. Mahajan; Shrikant Mane; Maritza Arroyo Muniz; Patrick G. Gallagher

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley (ISSN 0885-3185)

Published

2011

Language

EN

Field

Medicine (Health Sciences)