期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 64, 期 1, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.ejmg.2020.104116
关键词
TELO2; DNA-Repair; Microcephaly; Intellectual disability; Ataxia
资金
- Telethon Foundation [GSP15001]
- Fondazione Pierfranco e Luisa Mariani [CM22]
TELO2-related syndrome is a rare disorder characterized by global developmental delay and various symptoms. We presented a case where two sisters with the syndrome showed a milder phenotype possibly due to a specific gene variant.
Biallelic loss of function of TELO2 gene cause a severe syndromic disease mainly characterized by global developmental delay with poor motor and language acquisitions, microcephaly, short stature, minor facial and limbs anomalies, sleep disorder, spasticity, and balance impairment up to ataxia. TELO2-related syndrome, also known as You-Hoover-Fong Syndrome, is extremely rare and since its first description in 2016 only 8 individuals have been reported, all showing a severe disability. The causative gene is member of the big molecular family of genes responsible for cells proliferation and DNA stability. We describe the case of two sisters, carrying the homozygous p. Arg609His variant of the gene, who present a milder phenotype of TELO2-related syndrome. Such variant has been reported once in a more severely affected patient, in compound heterozygous state associated with the p. Pro260Leu variant, suggesting a possible role of the p. Arg609His variant in determining milder phenotypes. Comparing the siblings with all previously reported cases, we offer an overview on the condition and discuss TELO2 genetic interactions, in order to further explore the molecular bases of this recently described disorder.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据