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Movement disorders

SHORT REPORT

Ethnicity can predict GLRA1 genotypes in hyperekplexia R H Thomas,1,2,3 C J G Drew,2,4 S E Wood,4 C L Hammond,2,5 S K Chung,2,4 M I Rees2,4 ▸ Additional material is published online only. To view please visit the journal online (http://dx.doi.org/10.1136/ jnnp-2014-307903). For numbered affiliations see end of article. Correspondence to Dr Rhys H Thomas, MRC Centre for Neuropsychiatric Genetics & Genomics, Hadyn Ellis Building, Cathays, Cardiff University, Cardiff CF24 4HQ, UK; [email protected] Professor Mark I Rees, College of Medicine, Institute of Life Science, Swansea University, SA2 8PP, UK; [email protected] Received 16 February 2014 Revised 15 May 2014 Accepted 2 June 2014 Published Online First 26 June 2014

ABSTRACT Objectives Hyperekplexia is predominantly caused by mutations in the α-1 subunit of the inhibitory glycine receptor (GLRA1). Three quarters of cases show autosomal-recessive inheritance. Methods We carefully ascertained reports of ethnicity from our hyperekplexia research cohort. These were compared with all published cases of hyperekplexia with an identified genetic cause. Ethnicities were subgrouped as Caucasian, Asian, Arabic, Turkish, Jewish or Afro-American. Results We report the ethnicity of 90 cases: 56 cases from our service augmented by 34 cases from the literature. Homozygous deletions of exons 1 to 7 are predominantly seen in people with Turkish backgrounds (n=16/17, p

Ethnicity can predict GLRA1 genotypes in hyperekplexia.

Hyperekplexia is predominantly caused by mutations in the α-1 subunit of the inhibitory glycine receptor (GLRA1). Three quarters of cases show autosom...
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