Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum.

TitleExome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum.
Publication TypeJournal Article
Year of Publication2014
AuthorsNoreau, A, Beauchemin, P, Dionne-Laporte, A, Dion, PA, Rouleau, GA, Dupré, N
Corporate AuthorsFORGE Canada
JournalCerebellum Ataxias
Volume1
Pagination8
Date Published2014
ISSN2053-8871
Abstract

Two affected and one unaffected siblings from a French-Canadian family were evaluated in our neurogenetic clinic. The oldest brother had intentional and postural hand tremor while his youngest sister presented mild ataxia, a similar hand tremor and global developmental delay. Brain MRIs of the two affected family members further revealed a significant cerebellar atrophy. For this study we conducted a whole exome sequencing (WES) investigation using genomic DNA prepared from the affected brother and sister, alongside DNA prepared from their unaffected mother, and identified two mutations previously reported to cause a rare disorder known as Congenital Disorder of Glycosylation, type Ia (CDG1A) (OMIM #212065). This study emphasizes how the diagnosis of patients presenting a mild tremor phenotype associated with cerebellar atrophy may benefit from WES in establishing genetic defects associated with their conditions.

DOI10.1186/2053-8871-1-8
Alternate JournalCerebellum Ataxias
PubMed ID26331032
PubMed Central IDPMC4552392