Yunis-Varon syndrome (YVS; OMIM 216340) is a rare heterogeneous autosomal recessive disorder with easy recognition of characteristic severe neurological and skeletal abnormalities involving skeletal muscles and cartilages. This cleidocranial dysplasia is characterized by bone and tooth disorders; it also affects the cardiovascular system and tissues from ectoderm with very poor outcomes. Rarely, mutations of the FIG4 gene, encoding a 50-phosphoinositide phosphatase have been identified as the cause for YVS. We report a neonate born to a consanguineous couple with typical clinical manifestations of YVS. Using whole-exome sequencing, we identified a novel homozygous missense variant (c.968A#x3e;G; p.Gln323Arg) in the FIG4 gene. Thus, our study expands the molecular and genetic spectrum of FIG4-associated mutations. To our knowledge, this is the first reported case of YVS from the Saudi population.
Mol Syndromol

中文翻译：

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Fig4-Associated Yunis-Varon Syndrome：新错义变体的鉴定

Yunis-Varon 综合征 (YVS; OMIM 216340) 是一种罕见的异质性常染色体隐性遗传病，易于识别涉及骨骼肌和软骨的特征性严重神经和骨骼异常。这种锁颅发育不良的特点是骨骼和牙齿疾病；它还影响心血管系统和外胚层组织，结果非常差。极少数情况下，编码 50-磷酸肌醇磷酸酶的FIG4基因突变已被确定为 YVS 的原因。我们报告了一对具有典型 YVS 临床表现的近亲夫妇所生的新生儿。使用全外显子组测序，我们在 FIG4 中鉴定了一种新的纯合错义变体 (c.968A#x3e;G; p.Gln323Arg )基因。因此，我们的研究扩展了FIG4相关突变的分子和遗传谱。据我们所知，这是沙特人口中首例报告的 YVS 病例。
摩尔综合症