A novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits.
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.
Department of Neurology, Gunma University Graduate School of Medicine, Japan.
Natsumi
N
Furuta
Masaki
M
Ikeda
Kimitoshi
K
Hirayanagi
Yukio
Y
Fujita
Makoto
M
Amanuma
Koichi
K
Okamoto
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D019943:Amino Acid Substitution; D001483:Base Sequence; D018031:Connexin 43 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense; D010264:Paraplegia / Q000235:genetics*; D010375:Pedigree; D012678:Sensation Disorders / Q000235:genetics / Q000503:physiopathology; D014071:Tooth Abnormalities / Q000235:genetics*
D018031:Connexin 43; C500216:GJA1 protein, human