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Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations
Author(s) -
van Paassen Barbara W.,
Bronk Marieke,
Verhamme Camiel,
van Ruissen Fred,
Baas Frank,
van SpaendonckZwarts Karin Y.,
de Visser Marianne
Publication year - 2017
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1111/jns.12236
Subject(s) - aunt , proband , sister , genetics , inheritance (genetic algorithm) , grandparent , disease , mutation , non mendelian inheritance , medicine , biology , psychology , gene , mitochondrial dna , developmental psychology , sociology , anthropology
We report a family in which an autosomal dominantly inherited Charcot‐Marie‐Tooth (CMT) disease type 2 was suspected. The affected family members (proband, sister, father, and paternal aunt) showed intrafamilial clinical variability. The proband needed walking aids since adolescence because of generalized muscle weakness. The sister showed the same symptoms although to a lesser extent. The father and paternal aunt had foot deformity and atrophy of lower legs. A homozygous GDAP1 mutation was found in the proband and in the sister. Further testing showed compound heterozygous GDAP1 mutations in the father and paternal aunt. In this CMT2 family with a pseudodominant inheritance pattern DNA‐diagnostics revealed the presence of both homozygous and compound heterozygous GDAP1 mutations. We recommend including multiple family members in genetic studies on CMT families.