Congenital hypothyroidism (CH) is one of the most common hereditary disorders affecting neonates worldwide. CH is a multifactorial complex disorder and can be caused by either environmental factors or genetic factors. We studied one Pakistani family with segregating mutations in CH inherited in an autosomal recessive manner. Using whole-exome sequencing (WES), we found a novel homozygous missense variant (c.2315A>G; p.Tyr772Cys) in the thyroid peroxidase (TPO) gene. Different bioinformatics prediction tools and Sanger sequencing were performed to verify the identified variant. Our findings highlight the importance of this gene in causing CH and mild-intellectual disability (ID) in two affected brothers. WES is a convenient and useful tool for the clinical diagnosis of CH and other associated disorders.

先天性甲状腺功能减退症（CH）是影响全世界新生儿的最常见的遗传性疾病之一。CH是一种多因素复杂疾病，可由环境因素或遗传因素引起。我们研究了一个巴基斯坦家庭，该巴基斯坦家庭具有以常染色体隐性方式遗传的CH分离突变。使用全外显子测序（WES），我们在甲状腺过氧化物酶（TPO）基因中发现了一个新的纯合错义变体（c.2315A> G； p.Tyr772Cys）。进行了不同的生物信息学预测工具和Sanger测序，以验证鉴定出的变异。我们的发现强调了该基因在引起两个患病兄弟中的CH和轻度智力障碍（ID）方面的重要性。WES是用于CH和其他相关疾病的临床诊断的便捷实用工具。