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Identification of genetic etiology of CAMRQ2

ABSTRACT: We aimed to identify genetic etiology of cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ). Targeted sequencing of the entire CAMRQ2 locus, 7.1 Mb interval on chromosome 17p13, in three affected individuals and two obligate carriers uncovered the mutation associated with CAMRQ2.

PROVIDER: EGAS00000000099 | EGA |

REPOSITORIES: EGA

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Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.

Gulsuner Suleyman S Tekinay Ayse Begum AB Doerschner Katja K Boyaci Huseyin H Bilguvar Kaya K Unal Hilal H Ors Aslihan A Onat O Emre OE Atalar Ergin E Basak A Nazli AN Topaloglu Haluk H Kansu Tulay T Tan Meliha M Tan Uner U Gunel Murat M Ozcelik Tayfun T

Genome research 20110901 12

The biological basis for the development of the cerebro-cerebellar structures required for posture and gait in humans is poorly understood. We investigated a large consanguineous family from Turkey exhibiting an extremely rare phenotype associated with quadrupedal locomotion, mental retardation, and cerebro-cerebellar hypoplasia, linked to a 7.1-Mb region of homozygosity on chromosome 17p13.1-13.3. Diffusion weighted imaging and fiber tractography of the patients' brains revealed morphological a ...[more]

PMID: 21885617

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