Oculodentodigital Dysplasia

野中, 和明; 立川, 義博; 佐々木, 康成; 松本, 敏秀; 大谷, 裕子; 中田, 稔

doi:10.1007/3-540-27660-2_64

Magnetic Resonance of Myelination and Myelin Disorders 2005

DOI: 10.1007/3-540-27660-2_64

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Oculodentodigital Dysplasia

和明野中¹,

義博立川²,

康成佐々木³

et al.

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2015

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Oculodentodigital Dysplasia with Massive Brain Calcification and a New Mutation of GJA1 Gene

Tumminelli

Donato

Guida

et al. 2015

JAD

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Oculodentodigital dysplasia (ODDD) [MIM 164200] is a rare disorder caused by mutations in the gap junction alpha 1 (GJA1) gene encoding for connexin 43 (Cx43). Typical signs include type III syndactyly, microphtalmia, microdontia, and neurological disturbances. We report a 59-year-old man having clinical symptoms and signs suggestive of ODDD, with some rarely reported features, that is the presence of gross calcifications of basal ganglia and cerebellar nuclei. Mutation analysis of GJA1 gene identified an unreported heterozygous missense mutation [NM_000165.3:c.124 G>C;p.(Glu42Gln)], which may be thought to alter the brain microvessels leading to massive calcifications, as in primary familial brain calcification.

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Oculodentodigital Dysplasia with Massive Brain Calcification and a New Mutation of GJA1 Gene

Tumminelli

Donato

Guida

et al. 2015

JAD

View full text Add to dashboard Cite

show abstract

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Oculodentodigital Dysplasia

Cited by 1 publication

References 11 publications

Oculodentodigital Dysplasia with Massive Brain Calcification and a New Mutation of GJA1 Gene

Oculodentodigital Dysplasia with Massive Brain Calcification and a New Mutation of GJA1 Gene

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