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Article

Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.

American journal of medical genetics. Part A - 1 Jun 2016

Evers Christina, Kaufmann Lilian, Seitz Angelika, Paramasivam Nagarajan, Granzow Martin, Karch Stephanie, Fischer Christine, Hinderhofer Katrin, Gdynia Georg, Elsässer Michael, Pinkert Stefan, Schlesner Matthias, Bartram Claus R, Moog Ute

Abstract excerpt

Intellectual disability (ID) with cerebellar ataxia comprises a genetically heterogeneous group of neurodevelopmental disorders. We identified a homozygous frameshift mutation in CWF19L1 (c.467delC; p.(P156Hfs*33)) by a combination of linkage analysis and Whole Exome Sequencing in a consanguineous Turkish family with a 9-year-old boy affected by early onset cerebellar ataxia and mild ID. Serial MRI showed mildly...

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PMID: 27016154
DOI: 10.1002/ajmg.a.37632

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