Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias.

ABSTRACT:

Background

The genetic causes of many rare inherited motoneuron diseases and ataxias (MND and ATX) remain largely unresolved, especially for sporadic patients, despite tremendous advances in gene discovery. Whole exome data is often available for patients, but it is rarely evaluated for unusual inheritance patterns, such as uniparental disomy (UPD). UPD is the inheritance of two copies of a chromosomal region from one parent, which may generate homozygosity for a deleterious recessive variant from only one carrier-parent. Detection of UPD-caused homozygous disease-causing variants is detrimental to accurate genetic counseling. Whole-exome sequencing can allow for the detection of such events.

Methods

We systematically studied the exomes of a phenotypically heterogeneous coho

SUBMITTER: Bis DM 

PROVIDER: S-EPMC5441426 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature