当前位置: X-MOL 学术Clin. Genet. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant - delineation based on seven novel Polish patients.
Clinical Genetics ( IF 3.5 ) Pub Date : 2020-07-29 , DOI: 10.1111/cge.13822
Aleksandra Jezela-Stanek 1 , Elżbieta Szczepanik 2 , Hanna Mierzewska 2 , Małgorzata Rydzanicz 3 , Karolina Rutkowska 3 , Alexej Knaus 4 , Robert Śmigiel 5 , Iwona Stępniak 6 , Michał G Markiewicz 7 , Snir Boniel 3 , Peter Krawitz 4 , Rafał Płoski 3
Affiliation  

PIGT is one of over 29 glycosylphosphatidylinositol biosynthesis defect genes. Mutations cause genetically determined disorders characterized mainly by epilepsy with fever‐sensitivity, central hypotonia, psychomotor delay and congenital malformations. The disease is known as multiple congenital anomalies‐hypotonia‐seizures syndrome 3 (MCAHS3) or glycosylphosphatidylinositol biosynthesis defect‐7. Twenty‐eight cases have been reported until today. We present seven novel Polish patients, all harboring 1582G>A variant in a homozygous or compound heterozygous state which seems to cause a milder phenotype of the disease.

中文翻译:

c.1582G>A PIGT 变体的较温和表型谱的证据 - 基于七名新的波兰患者的描述。

PIGT是超过 29 种糖基磷脂酰肌醇生物合成缺陷基因之一。突变导致基因决定的疾病,其主要特征是癫痫伴发热敏感性、中枢性张力减退、精神运动延迟和先天性畸形。该疾病被称为多发性先天性异常-张力减退-癫痫综合征 3 (MCAHS3) 或糖基磷脂酰肌醇生物合成缺陷-7。截至今天,已报告了 28 例病例。我们介绍了七名新的波兰患者,所有患者都携带 1582G>A 纯合子或复合杂合子状态的变体,这似乎导致该疾病的轻度表型。
更新日期:2020-07-29
down
wechat
bug