Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations

• DOI: 10.1111/jns.12236
• Publication Date: 2017-08-24T14:51:57Z
• Authors: Barbara W. van Pa...; Marieke Bronk; Camiel Verhamme; Fred van Ruissen; Frank Baas; Karin Y. van Spae...; Marianne de Visser
• Keywords: Aunt; Proband; Sister; Inheritance; Non-Mendelian inheritance

We report a family in which an autosomal dominantly inherited Charcot-Marie-Tooth (CMT) disease type 2 was suspected. The affected members (proband, sister, father, and paternal aunt) showed intrafamilial clinical variability. proband needed walking aids since adolescence because of generalized muscle weakness. sister the same symptoms although to lesser extent. father aunt had foot deformity atrophy lower legs. A homozygous GDAP1 mutation found sister. Further testing compound heterozygous mutations aunt. In this CMT2 with pseudodominant inheritance pattern DNA-diagnostics revealed presence both mutations. recommend including multiple genetic studies on CMT families.