纯合 PCDH12 变异导致小脑共济失调、肌张力障碍、视网膜病变和发育异常的表型。
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.
机构信息
Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India.
Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.
出版信息
J Hum Genet. 2019 Feb;64(2):183-189. doi: 10.1038/s10038-018-0541-9. Epub 2018 Nov 20.
We report on a sib pair of Indian origin born of a consanguineous parentage with a novel phenotype of distinct facial dysmorphism, cerebellar ataxia, dystonia, and exudative retinopathy due to homozygous PCDH12 nonsense variations. cDNA studies showed >90% reduction in transcript levels in both patients, indicating nonsense-mediated decay and loss of function as the probable causative molecular mechanism of the phenotype.
我们报道了一对来自印度的同卵双胞胎，他们的父母是近亲，具有独特的面部畸形、小脑共济失调、肌张力障碍和渗出性视网膜炎的新型表型，这是由于 PCDH12 无义变异的纯合子所致。cDNA 研究表明，两名患者的转录本水平均降低了>90%，表明无义介导的衰变和功能丧失可能是该表型的致病分子机制。
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