Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Shahid Hemmat Highway, Tehran, Iran.
Student Research Committee, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Mol Biol Rep. 2021 Dec;48(12):8239-8243. doi: 10.1007/s11033-021-06746-7. Epub 2021 Oct 9.
Congenital central hypoventilation syndrome (CCHS) is an extremely rare genetic disorder characterized by Autonomic nervous system dysregulation caused by mutations in the PHOX2B gene. Here we introduce the first genetic analysis of a one-month-old CCHS baby girl in Iran.
Genetic analysis of the PHOX2B gene was performed by Sanger sequencing and interpreted using the American College of Medical Genetics and Genomics (ACMG) guideline. The results showed a heterozygous duplication in exon 3, causing a polyalanine repeat expansion mutation to 27 repeats in thePHOX2B gene (20/27 genotype).The patient's parents did not demonstrate this mutation on genetic studies.
According to the ACMG guideline, the mutation is pathogenic, and it was a denovo mutation in the family. The genetic study can help the family for prenatal diagnosis or pre-implantation diagnosis if the parents have gonadal mosaicism.
先天性中枢性肺泡通气不足综合征（CCHS）是一种极其罕见的遗传疾病，其特征是自主神经系统失调，由 PHOX2B 基因突变引起。在这里，我们介绍了伊朗首例一个月大的 CCHS 女婴的基因分析。
通过 Sanger 测序对 PHOX2B 基因进行了基因分析，并根据美国医学遗传学与基因组学学院（ACMG）指南进行了解读。结果显示，外显子 3 存在杂合性重复，导致 PHOX2B 基因中的多丙氨酸重复扩展突变至 27 个重复（20/27 基因型）。患者的父母在基因研究中未显示出这种突变。
根据 ACMG 指南，该突变是致病性的，并且是家族中的新生突变。如果父母存在性腺嵌合现象，该基因研究可以帮助家庭进行产前诊断或植入前诊断。
