Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/12277
Title: Ethnicity can predict GLRA1 genotypes in hyperekplexia.
Authors: Thomas, R H;Drew, C J G;Wood, S E;Hammond, C L;Chung, Seo-Kyung;Rees, M I
Affiliation: 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.
Institute of Life Science, College of Medicine, Swansea University, Swansea, UK.
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.
Wales Epilepsy Research Network (WERN), College of Medicine, Swansea University, Swansea, UK Institute of Life Science, College of Medicine, Swansea University, Swansea, UK.
Issue Date: 26-Jun-2014
Citation: Journal of Neurology, Neurosurgery, and Psychiatry 2014; 86(3): 341-3
Abstract: 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.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.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).Self-declared ethnicity can predict gene-screening outcomes. Cultural practices influence the inheritance patterns and a Caucasian founder is postulated for R271 mutations.
Internal ID Number: 24970905
URI: http://ahro.austin.org.au/austinjspui/handle/1/12277
DOI: 10.1136/jnnp-2014-307903
URL: http://www.ncbi.nlm.nih.gov/pubmed/24970905
Type: Journal Article
Subjects: Genetics
Movement Disorders
Neurogenetics
Paediatric Neurology
Chromosome Deletion
Cohort Studies
Cross-Cultural Comparison
DNA Mutational Analysis
Ethnic Groups.genetics
Exons.genetics
Gene Frequency.genetics
Genes, Dominant.genetics
Genes, Recessive.genetics
Genotype
Heterozygote Detection
Homozygote
Humans
Point Mutation.genetics
Receptors, Glycine.genetics
Stiff-Person Syndrome.ethnology.genetics
Appears in Collections:Journal articles

Files in This Item:
There are no files associated with this item.


Items in AHRO are protected by copyright, with all rights reserved, unless otherwise indicated.