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Ethnicity can predict GLRA1 genotypes in hyperekplexia

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.

Publication metadata

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

Year: 2015

Volume: 86

Issue: 3

Pages: 341-343

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


DOI: 10.1136/jnnp-2014-307903

PubMed id: 24970905


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