Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations.
J Peripher Nerv Syst
; 22(4): 464-467, 2017 12.
Article
em En
| MEDLINE
| ID: mdl-28837237
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Charcot-Marie-Tooth
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Padrões de Herança
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Proteínas do Tecido Nervoso
Limite:
Adult
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Humans
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Middle aged
Idioma:
En
Revista:
J Peripher Nerv Syst
Ano de publicação:
2017
Tipo de documento:
Article