• R H Thomas, C J G Drew, S E Wood, C L Hammond, S K Chung, and M I Rees.
• MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, Cathays, UK Wales Epilepsy Research Network (WERN), College of Medicine, Swansea University, Swansea, UK Epilepsy Research Centre, Austin Hospital, Heidelberg, Melbourne, Victoria, Australia.
• J. Neurol. Neurosurg. Psychiatr. 2015 Mar 1; 86 (3): 341-3.

ObjectivesHyperekplexia is predominantly caused by mutations in the α-1 subunit of the inhibitory glycine receptor (GLRA1). Three quarters of cases show autosomal-recessive inheritance.MethodsWe 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.ResultsWe 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<0.001). In contrast, the dominant point mutation R271 is seen in people of Asian, Caucasian and African-American heritage (n=19) but not in people with Arab or Turkish ethnicities (p<0.001).ConclusionsSelf-declared ethnicity can predict gene-screening outcomes. Cultural practices influence the inheritance patterns and a Caucasian founder is postulated for R271 mutations.Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

31 keywords...

hide…