A Novel GJA1 Mutation in Oculodentodigital Dysplasia with Progressive Spastic Paraplegia and Sensory Deficits

Natsumi Furuta; Masaki Ikeda; Kimitoshi Hirayanagi; Yukio Fujita; Makoto Amanuma; Koichi Okamoto

doi:10.2169/internalmedicine.51.5770

CASE REPORTS

A Novel GJA1 Mutation in Oculodentodigital Dysplasia with Progressive Spastic Paraplegia and Sensory Deficits

Natsumi Furuta, Masaki Ikeda, Kimitoshi Hirayanagi, Yukio Fujita, Makoto Amanuma, Koichi Okamoto

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Keywords: oculodentodigital dysplasia (ODDD), GJA1, mutation, spastic paraparesis, peripheral sensory nerve deficits, MRI

JOURNAL OPEN ACCESS

2012 Volume 51 Issue 1 Pages 93-98

DOI https://doi.org/10.2169/internalmedicine.51.5770

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Abstract

Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant inherited disorder mainly affecting the development of the face, eyes, dentition, limbs, hair and heart. GJA1 (the gap junction protein α-1) has been determined to be a causative gene of ODDD, mapped to chromosome 6q22-24 identified as the connexin 43 gene (Cx43). We found a novel GJA1 mutation (W25C) as the possible causative gene in this sporadic ODDD patient with neurological features of motor deficits by pyramidal tract signs, and sensory deficits due to peripheral nerve disturbance. It is also notable that the MRI of this patient demonstrated widespread aberrant signal lesions in the brain and brainstem.

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