title: Ethnicity can predict GLRA1 genotypes in hyperekplexia.
abstract: OBJECTIVE
  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<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 gene-screening outcomes. Cultural practices influence the inheritance patterns and a Caucasian founder is postulated for R271 mutations.
authors: 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.
authors: R H
authors: RH
authors: Thomas
authors: Wales Epilepsy Research Network (WERN), College of Medicine, Swansea University, Swansea, UK Institute of Life Science, College of Medicine, Swansea University, Swansea, UK.
authors: C J G
authors: CJ
authors: Drew
authors: Institute of Life Science, College of Medicine, Swansea University, Swansea, UK.
authors: S E
authors: SE
authors: Wood
authors: Wales Epilepsy Research Network (WERN), College of Medicine, Swansea University, Swansea, UK Genetic Counselling Service, Guy's and St Thomas' NHS Foundation Trust, St Thomas' Hospital, London, UK.
authors: C L
authors: CL
authors: Hammond
authors: Wales Epilepsy Research Network (WERN), College of Medicine, Swansea University, Swansea, UK Institute of Life Science, College of Medicine, Swansea University, Swansea, UK.
authors: S K
authors: SK
authors: Chung
authors: Wales Epilepsy Research Network (WERN), College of Medicine, Swansea University, Swansea, UK Institute of Life Science, College of Medicine, Swansea University, Swansea, UK.
authors: M I
authors: MI
authors: Rees
mesh_terms: D002872:Chromosome Deletion; D015331:Cohort Studies; D003431:Cross-Cultural Comparison; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D006580:Genetic Carrier Screening; D005838:Genotype; D006720:Homozygote; D006801:Humans; D017354:Point Mutation / Q000235:genetics; D018009:Receptors, Glycine / Q000235:genetics*; D016750:Stiff-Person Syndrome / Q000208:ethnology* / Q000235:genetics*
chemical_list: C000657604:GLRA1 protein, human; D018009:Receptors, Glycine
keywords: Genetics; Movement Disorders; Neurogenetics; Paediatric Neurology