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Hypertelorism in Charcot-Marie-Tooth disease 1A from the common PMP22 duplication: a case report
Oman Medical Journal. 2012; 27 (2): 164-167
em Inglês | IMEMR | ID: emr-124387
ABSTRACT
The 1.4Mb tandem-duplication in the PMP22 gene at 17p11.2 usually manifests as hereditary sensorimotor polyneuropathy with foot deformity, sensorineural hearing-loss, moderate developmental delay, and gait disturbance. Hypertelorism and marked phenotypic variability within a single family has not been reported. In a single family, the PMP22 tandem-duplication manifested as short stature, sensorimotor polyneuropathy, tremor, ataxia, sensorineural hearing-loss, and hypothyroidism in the 27 years-old index case, as mild facial dysmorphism, muscle cramps, tinnitus, intention tremor, bradydiadochokinesia, and sensorimotor polyneuropathy in the 31 year-old half-brother of the index-patient, and as sensorimotor polyneuropathy and footdeformity in the father of the two. The half-brother additionally presented with hypertelorism, not previously reported in PMP22 tandem-duplication carriers. The presented cases show that the tandem-duplication 17p11.2 may present with marked intrafamilial phenotype variability and that mild facial dysmorphism with stuck-out ears and hypertelorism may be a rare phenotypic feature of this mutation. The causal relation between facial dysmorphism and the PMP22 tandem-duplication, however, remains speculative
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Índice: IMEMR (Mediterrâneo Oriental) Assunto principal: Doença de Charcot-Marie-Tooth / Duplicação Gênica / Proteínas da Mielina / Condução Nervosa Tipo de estudo: Relato de Casos Limite: Humanos / Masculino Idioma: Inglês Revista: Oman Med. J. Ano de publicação: 2012

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Índice: IMEMR (Mediterrâneo Oriental) Assunto principal: Doença de Charcot-Marie-Tooth / Duplicação Gênica / Proteínas da Mielina / Condução Nervosa Tipo de estudo: Relato de Casos Limite: Humanos / Masculino Idioma: Inglês Revista: Oman Med. J. Ano de publicação: 2012