TY - JOUR
T1 - Familial choreoathetosis due to novel heterozygous mutation in PDE10A
AU - Narayanan, Dhanya L.
AU - Deshpande, Dipti
AU - Das Bhowmik, Aneek
AU - Varma, Dandu R.
AU - Dalal, Ashwin
N1 - Funding Information:
Authors are thankful to the family for participation in the study. Science and Engineering Research Board (SERB), Government of India is also acknowledged for providing research grant to ADB under the category of young scientist scheme (SERB file no. YSS/2015/001681).
Publisher Copyright:
© 2017 Wiley Periodicals, Inc.
PY - 2018/1
Y1 - 2018/1
N2 - 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.
AB - 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.
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U2 - 10.1002/ajmg.a.38507
DO - 10.1002/ajmg.a.38507
M3 - Article
C2 - 29130591
AN - SCOPUS:85033716143
SN - 1552-4825
VL - 176
SP - 146
EP - 150
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 1
ER -