Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome,International Journal of Developmental Neuroscience

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Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome
International Journal of Developmental Neuroscience ( IF 1.7 ) Pub Date : 2020-07-31 , DOI: 10.1002/jdn.10029
Qiuyan Liu ₁ , Haiqiao Wang ₂ , Jianhui Zhao ₁ , Zhicui Liu ₁ , Dianrong Sun ₁ , Aiyun Yuan ₁ , Guangjin Luo ₁ , Wei Wei ₃ , Mei Hou ₁

Affiliation

Joubert syndrome (JS) is a rare clinically and genetically heterogeneous disease. Using whole or targeted exome sequencing, we identified four novel compound heterozygous mutations in chromosome 5 open reading frame 42 gene (C5orf42), including c.2876C>T (missense mutation) and c.3921+1G>A (splicing mutation), c.2292 ‐2delA (splicing mutation) and c.4067C>T (missense mutation), c.6997_6998insT (frameshift mutation) and c.8710C>T (nonsense mutation), c.3981G>C (nonsense mutation) and c.230 _233del (frameshift mutation), in four Chinese JS families. They were all inherited from their heterozygosis parents in the autosomal recessive inheritance mode. Pure JS clinical manifestations and mild neuroimaging findings were found in these patients. These verified the previous findings that C5orf42 mutations generally resulted in a purely neurological Joubert phenotype, and neuroimaging findings were mild in JS with C5orf42 mutations. Our report analyzed these C5orf42 mutations‐associated phenotypes and neuroimaging findings in JS and updated the genetic variation spectrum of JS caused by C5orf42.These will help clinicians and geneticists reach a more accurate diagnosis for JS.

中文翻译：

单纯和轻度Joubert综合征患者C5orf42基因4个新型复合杂合突变

Joubert 综合征 (JS) 是一种罕见的临床和遗传异质性疾病。使用全基因组或靶向外显子组测序，我们在第 5 号染色体开放阅读框 42 基因（C5orf42）中发现了四种新的复合杂合突变，包括 c.2876C>T（错义突变）和 c.3921+1G>A（剪接突变），c .2292 ‐2delA（剪接突变）和 c.4067C>T（错义突变）、c.6997_6998insT（移码突变）和 c.8710C>T（无义突变）、c.3981G>C（无义突变）和 c.230 _233del（移码突变），在四个中文JS家族中。他们都是以常染色体隐性遗传模式从杂合子父母那里遗传的。在这些患者中发现了纯 JS 临床表现和轻微的神经影像学表现。这些证实了先前的发现，即 C5orf42 突变通常导致纯粹的神经系统 Joubert 表型，并且神经影像学发现在具有 C5orf42 突变的 JS 中是轻微的。我们的报告分析了 JS 中这些 C5orf42 突变相关的表型和神经影像学发现，并更新了 C5orf42 引起的 JS 的遗传变异谱。这些将有助于临床医生和遗传学家对 JS 做出更准确的诊断。

更新日期：2020-07-31

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