Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum.
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.
Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec Canada ; Department of Pathology and Cellular Biology, Université de Montréal, Montreal, Quebec Canada.
Anne
A
Noreau
Faculty of Medicine of Laval University and the Department of Neurological Sciences of the Centre Hopitalier, Universitaire de Québec, 1401, 18th Street, Quebec, QC G1J 1Z4 Canada.
Philippe
P
Beauchemin
Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec Canada.
Alexandre
A
Dionne-Laporte
Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec Canada ; Department of Pathology and Cellular Biology, Université de Montréal, Montreal, Quebec Canada ; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec Canada.
Patrick A
PA
Dion
Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec Canada ; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec Canada.
Guy A
GA
Rouleau
Faculty of Medicine of Laval University and the Department of Neurological Sciences of the Centre Hopitalier, Universitaire de Québec, 1401, 18th Street, Quebec, QC G1J 1Z4 Canada.
Nicolas
N
Dupré
Ataxia; Cerebellar; Mutations; PMM2; Whole exome sequencing