当前位置: X-MOL 学术Ophthalmic 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.)
Cataract in You-Hoover-Fong syndrome: TELO2 deficiency.
Ophthalmic Genetics ( IF 1.2 ) Pub Date : 2020-09-17 , DOI: 10.1080/13816810.2020.1821382
Cristina Del-Prado-Sánchez 1 , Judith Armstrong-Moron 2 , Carla Veiga 1 , Stefano Grixolli-Mazzon 1 , Àngels García-Cazorla 3 , Natalia Juliá-Palacios 3 , Marta Morales-Ballús 1
Affiliation  

ABSTRACT

Introduction

Recently, You, Hoover-Fong, and colleagues described a disease caused by a deficiency of the telomere maintenance 2 gene (TELO2) function. The clinical spectrum includes early-onset global delay, dysmorphic facial features, auditory disorder, and reduced vision.

Materials and methods

We report two siblings, diagnosed with You-Hoover-Fong syndrome at the age of 28 and 14 months. Both were genetically studied to find the cause of their developmental delay and microcephaly.

Results

The identical compound heterozygous missense mutations in the TELO2gene were found in each. Ophthalmologically, both siblings were diagnosed with progressive congenital bilateral nuclear-lamellar cataracts.

Conclusions

We report nuclear-lamellar cataracts in two siblings diagnosed with You-Hoover-Fong syndrome.



中文翻译:

胡佛风综合症的白内障:TELO2缺乏症。

摘要

介绍

最近,You,Hoover-Fong及其同事描述了一种由端粒维持2基因(TELO2)功能缺陷引起的疾病。临床范围包括早期发作的整体延迟,面部畸形,听觉障碍和视力下降。

材料和方法

我们报告了两个兄弟姐妹,分别在28和14个月大时被诊断患有You-Hoover-Fong综合征。两者均经过基因研究,以找出其发育延迟和小头畸形的原因。

结果

在每个中都发现了TELO2基因中相同的化合物杂合错义突变。在眼科上,两个兄弟姐妹均被诊断为进行性先天性双侧核-片性白内障。

结论

我们报告了两个患有You-Hoover-Fong综合征的兄弟姐妹的核状白内障。

更新日期:2020-11-16
down
wechat
bug