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Dhanya Lakshmi, N. and Deshpande, D. and Das Bhowmik, A. and Varma, D.R. and Dalal, Ashwin (2018) Familial choreoathetosis due to novel heterozygous mutation in PDE10A. American Journal of Medical Genetics Part A, 176 (1). pp. 146-150. ISSN 1552-4825

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Abstract

PDE10A encodes a dual cAMP-cGMP phosphodiesterase that is enriched in the medium spiny neurons of the corpus striatum in the brain and plays an important role in basal ganglia circuitry. Three unrelated patients with childhood onset chorea and striatal abnormalities on MRI brain with heterozygous de novo variants in PDE10A have been described previously. Two families with eight affected individuals with biallelic mutations in PDE10A have also been described previously. We report a family with multiple affected individuals with childhood onset chorea, striatal abnormalities, and a novel heterozygous mutation, c.1001T>G(p.F334C) in PDE10A which was identified by exome sequencing.

Item Type: Article
Depositing User: Dr P Divakar
Date Deposited: 17 Nov 2017 11:28
Last Modified: 31 Dec 2019 12:18
URI: http://cdfd.sciencecentral.in/id/eprint/808

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