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.
Wales Epilepsy Research Network (WERN), College of Medicine, Swansea University, Swansea, UK Institute of Life Science, College of Medicine, Swansea University, Swansea, UK.
J Neurol Neurosurg Psychiatry. 2015 Mar;86(3):341-3. doi: 10.1136/jnnp-2014-307903. Epub 2014 Jun 26.
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.
发作性全身过度紧张主要由抑制性甘氨酸受体（GLRA1）α-1 亚单位的突变引起。四分之三的病例表现为常染色体隐性遗传。
我们仔细确定了发作性全身过度紧张研究队列中报告的种族情况。将这些情况与所有已发表的具有明确遗传原因的发作性全身过度紧张病例进行比较。种族分为高加索人、亚洲人、阿拉伯人、土耳其人、犹太人或非裔美国人。
我们报告了 90 例患者的种族情况：我们的服务中增加了 56 例，文献中增加了 34 例。具有土耳其背景的患者主要出现外显子 1 至 7 的纯合缺失（n=16/17，p<0.001）。相比之下，亚洲、高加索和非裔美国人血统的患者（n=19）中可见优势点突变 R271，但阿拉伯或土耳其血统的患者中未见（p<0.001）。
自我报告的种族可以预测基因筛查结果。文化习俗影响遗传模式，并且推测 R271 突变存在一个高加索人创始人。
