在两个伊朗近亲家庭中，患有综合征性智力残疾和面部畸形的患者中发现新型 突变。
Novel Mutation in in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism.
机构信息
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Student Research Committee, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
出版信息
Arch Iran Med. 2020 Dec 1;23(12):842-847. doi: 10.34172/aim.2020.112.
BACKGROUND
Recently, we have reported mutations in LARP7 gene, leading to neurodevelopmental disorders (NDDs), the most frequent cause of disability in children with a broad phenotype spectrum and diverse genetic landscape.
METHODS
Here, we present two Iranian patients from consanguineous families with syndromic intellectual disability, facial dysmorphism, and short stature.
RESULTS
Whole-exome sequencing (WES) revealed a novel homozygous stop-gain (c.C925T, p.R309X) variant and a previously known homozygous acceptor splice-site (c.1669-1_1671del) variant in LARP7 gene, indicating the diagnosis of Alazami syndrome.
CONCLUSION
These identified variants in patients with Alazami syndrome were consistent with previously reported loss of function variants in LARP7 and provide further evidence that loss of function of LARP7 is the disease mechanism.
背景
最近，我们报道了 LARP7 基因突变导致神经发育障碍（NDD）的情况，这是儿童残疾的最常见原因，患儿具有广泛的表型谱和多样化的遗传背景。
方法
在这里，我们介绍了来自两个有血缘关系的家庭的 2 名伊朗综合征性智力障碍、面部畸形和身材矮小患者。
结果
全外显子组测序（WES）显示 LARP7 基因中存在一个新的纯合终止突变（c.C925T，p.R309X）和一个先前已知的纯合接受体剪接位点突变（c.1669-1_1671del），提示诊断为 Alazami 综合征。
结论
这些在 Alazami 综合征患者中发现的变异与之前报道的 LARP7 功能丧失变异一致，并进一步证明 LARP7 功能丧失是疾病的发病机制。
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