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Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders.

Abstract：

:Next-generation sequencing was used to investigate 9 rare Chinese pedigrees with rare autosomal recessive neurologic Mendelian disorders. Five probands with ataxia-telangectasia and 1 proband with chorea-acanthocytosis were analyzed by targeted gene sequencing. Whole-exome sequencing was used to investigate 3 affected individuals with Joubert syndrome, nemaline myopathy, or spastic ataxia Charlevoix-Saguenay type. A list of known and novel candidate variants was identified for each causative gene. All variants were genetically verified by Sanger sequencing or quantitative polymerase chain reaction with the strategy of disease segregation in related pedigrees and healthy controls. The advantages of using next-generation sequencing to diagnose rare autosomal recessive neurologic Mendelian disorders characterized by genetic and phenotypic heterogeneity are demonstrated. A genetic diagnostic strategy combining the use of targeted gene sequencing and whole-exome sequencing with the aid of next-generation sequencing platforms has shown great promise for improving the diagnosis of neurologic Mendelian disorders.

journal_name

Neurobiol Aging

journal_title

Neurobiology of aging

authors

Chen Z,Wang JL,Tang BS,Sun ZF,Shi YT,Shen L,Lei LF,Wei XM,Xiao JJ,Hu ZM,Pan Q,Xia K,Zhang QY,Dai MZ,Liu Y,Ashizawa T,Jiang H

doi

10.1016/j.neurobiolaging.2013.04.029

subject

Has Abstract

pub_date

2013-10-01 00:00:00

pages

2442.e11-7

issue

10

eissn

0197-4580

issn

1558-1497

pii

S0197-4580(13)00197-8

journal_volume

34

pub_type

杂志文章

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