Clinical features and genotypes of six patients from four families with horizontal gaze palsy with progressive scoliosis.
Clinical features and genotypes of six patients from four families with horizontal gaze palsy with progressive scoliosis.
复制标题
DOI：
10.3389/fped.2022.949565
复制
发表时间：
2022
影响因子：
2.6
通讯作者：
Li, Ningdong
中科院分区：
文献类型：
--
作者：
Huang, Lijuan;Guo, Jianlin;Xie, Yan;Zhou, Yunyu;Wu, Xiaofei;Li, Hui;Peng, Yun;Li, Ningdong
伴有进行性脊柱侧凸的水平凝视麻痹（HGPPS）是一种罕见的疾病，主要涉及眼球运动和脊柱发育。它是由迂回引导受体 3 (ROBO3) 基因突变引起的。本研究旨在描述6例HGPPS患者的临床特征并探讨相应的ROBO3基因突变。患者接受了详细的临床和影像学检查。进行全外显子组测序以检测 HGPPS 致病基因的核苷酸变异。在 6 名 HGPPS 患者的 ROBO3 基因中检测到 6 种致病性变异，其中包括两种新的复合杂合突变，c.1447C > T (p.R483X) 和 c.2462G > C (p.R821P)； c.1033G > C (p.V345L) 和 c.3287G > T (p.C1096F)；一种新的纯合插入缺失突变，c.565dupC (p.R191Pfs*61)；和一个已知的错义突变，c.416G > T (p.G139V)。 HGPPS 患者存在水平共轭眼球运动缺陷和不同程度的脊柱侧弯，磁共振成像显示脑桥被盖扁平，皮质脊髓束不交叉。我们的遗传学发现将扩大 ROBO3 突变谱，并有助于为未来 HGPPS 分子机制的研究提供信息。
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder mainly involved in ocular movement and spinal development. It is caused by a roundabout guidance receptor 3 (ROBO3) gene mutation. This study aimed to describe the clinical features of six patients with HGPPS and investigate the corresponding ROBO3 gene mutations. Patients underwent detailed clinical and imaging examinations. Whole-exome sequencing was performed to detect nucleotide variations in the disease-causing genes of HGPPS. Six pathogenic variants were detected in the ROBO3 gene from six patients with HGPPS, including two novel compound heterozygous mutations, c.1447C > T (p.R483X) and c.2462G > C (p.R821P); c.1033G > C (p.V345L) and c.3287G > T (p.C1096F); a novel homozygous indel mutation, c.565dupC (p.R191Pfs*61); and a known missense mutation, c.416G > T (p.G139V). Patients with HGPPS had horizontal conjugated eye movement defects and scoliosis with variable degrees, as well as flattened pontine tegmentum and uncrossed corticospinal tracts on magnetic resonance imaging. Our genetic findings will expand the spectrum of ROBO3 mutations and help inform future research on the molecular mechanism of HGPPS.
登录
查看更多内容
影响因子：
--
作者：
Kim JH;Hwang JM
通讯作者：
Hwang JM
影响因子：
16.2
作者：
Marillat, V;Sabatier, C;Chédotal, A
通讯作者：
Chédotal, A
影响因子：
3.9
作者：
Vivian, Anthony J.
通讯作者：
Vivian, Anthony J.
影响因子：
2.6
作者：
Bouchoucha, Sami;Chikhaoui, Asma;Yacoub-Youssef, Houda
通讯作者：
Yacoub-Youssef, Houda
影响因子：
9.9
作者：
Bosley, TM;Salih, MAM;Baloh, RW
通讯作者：
Baloh, RW