Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations |
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| Authors: | Barbara W. van Paassen Camiel Verhamme Fred van Ruissen Frank Baas Karin Y. van Spaendonck‐Zwarts Marianne de Visser |
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| Affiliation: | 1. Department of Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The NetherlandsThese authors contributed equally.;2. Department of Neurology, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands;3. Department of Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands;4. Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands |
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| Abstract: | 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. |
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| Keywords: | Charcot‐Marie‐Tooth type 2 GDAP1 pseudodominant inheritance |
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