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

Cerebellum & Ataxias
Anne NoreauNicolas Dupré

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.

References

Nov 21, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·V WestphalH H Freeze
Apr 25, 2012·Current Neurology and Neuroscience Reports·Anna Sailer, Henry Houlden
Mar 30, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Suman Jayadev, Thomas D Bird
Oct 11, 2013·Human Mutation·Sarah L SawyerKym M Boycott
Jan 15, 2014·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·B P C van de WarrenburgO Riess

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Citations

Apr 4, 2021·Molecular Genetics & Genomic Medicine·Sumaya IslamDaniela Iancu

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Methods Mentioned

BETA
exome sequencing
biopsy
glycosylation

Software Mentioned

WES

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