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Lookup NU author(s): Dr Rhys ThomasORCiD
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© 2015 J Neurol Neurosurg Psychiatry.Objectives Hyperekplexia is predominantly caused by mutations in the á-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<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). Conclusions Self-declared ethnicity can predict genescreening outcomes. Cultural practices influence the inheritance patterns and a Caucasian founder is postulated for R271 mutations.
Author(s): Thomas RH, Drew CJG, Wood SE, Hammond CL, Chung SK, Rees MI
Publication type: Article
Publication status: Published
Journal: Journal of Neurology, Neurosurgery and Psychiatry
Print publication date: 01/03/2015
Online publication date: 26/06/2014
Acceptance date: 02/06/2014
ISSN (print): 0022-3050
ISSN (electronic): 1468-330X
Publisher: BMJ Publishing Group
PubMed id: 24970905
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