Format

Send to:

Choose Destination
See comment in PubMed Commons below
J Neurol Neurosurg Psychiatry. 2015 Mar;86(3):341-3. doi: 10.1136/jnnp-2014-307903. Epub 2014 Jun 26.

Ethnicity can predict GLRA1 genotypes in hyperekplexia.

Author information

  • 1MRC 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.
  • 2Wales Epilepsy Research Network (WERN), College of Medicine, Swansea University, Swansea, UK Institute of Life Science, College of Medicine, Swansea University, Swansea, UK.
  • 3Institute of Life Science, College of Medicine, Swansea University, Swansea, UK.
  • 4Wales 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.

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<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.

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.

KEYWORDS:

Genetics; Movement Disorders; Neurogenetics; Paediatric Neurology

PMID:
24970905
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire
    Loading ...
    Write to the Help Desk