In:
Journal of Alzheimer's Disease, IOS Press, Vol. 49, No. 1 ( 2015-11-03), p. 27-30
Abstract:
Oculodentodigital dysplasia (ODDD) [MIM 164200] is a rare disorder caused by mutations in the gap junctio n 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.
Type of Medium:
Online Resource
ISSN:
1387-2877
,
1875-8908
Language:
Unknown
Publisher:
IOS Press
Publication Date:
2015
detail.hit.zdb_id:
2070772-1
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