De Vriendt, Els

et al.

Jordanova, Albena

Motley, William W.

Palaima, Paulius

Yum, Sabrina W.

Abstract: We performed whole exome sequencing on a patient with CharcotMarieTooth disease type 1 and identified a de novo mutation in PMP2, the gene that encodes the myelin P2 protein. This mutation (p.Ile52Thr) was passed from the proband to his one affected son, and segregates with clinical and electrophysiological evidence of demyelinating neuropathy. We then screened a cohort of 136 European probands with uncharacterized genetic cause of CharcotMarieTooth disease and identified another family with CharcotMarieTooth disease type 1 that has a mutation affecting an adjacent amino acid (p.Thr51Pro), which segregates with disease. Our genetic and clinical findings in these kindred demonstrate that dominant PMP2 mutations cause CharcotMarieTooth disease type 1

De novo PMP2 mutations in families with type 1 CharcotMarieTooth disease

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