Department of Medical Genetics, Istanbul Haseki Training and Research Hospital, Istanbul, Turkey.
J Pediatr Endocrinol Metab. 2022 Apr 12;35(5):663-668. doi: 10.1515/jpem-2021-0556. Print 2022 May 25.
Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine metabolism, mostly caused by PAH gene variants. The aim of this study was to identify the frequency of PAH gene variants in Turkish population with PKU. In 433 patients with PKU, PAH gene was examined using next generation sequencing (NGS) method. IVS10- 11G>A, p.R261Q, p.A300S, p.A403V, and p.T380 variants, which are the most common variants in this study, constituted 45,9% of the variants in our study. Nine novel variants p.A34V, K73Qfs*4, R157H, R261S, p.T266I, p.S310P, T328A, p.F351I, and K363N were identified. This study determines the most common PAH variants in Turkey and shows that PKU can be screened before marriage with the screening kits. Identification of the PAH gene variant spectrum is important for early diagnosis, understanding molecular mechanisms, clinical follow-up, treatment, and genetic counseling. And the novel variants found this study are important for further studies.
苯丙酮尿症（PKU）是一种常染色体隐性遗传的苯丙氨酸代谢紊乱疾病，主要由 PAH 基因突变引起。本研究旨在确定土耳其 PKU 患者中 PAH 基因突变的频率。在 433 例 PKU 患者中，采用下一代测序（NGS）方法检测 PAH 基因。本研究中最常见的 IVS10-11G>A、p.R261Q、p.A300S、p.A403V 和 p.T380 变异构成了我们研究中变异的 45.9%。鉴定出了 9 种新的变异 p.A34V、K73Qfs*4、R157H、R261S、p.T266I、p.S310P、T328A、p.F351I 和 K363N。本研究确定了土耳其最常见的 PAH 变异，表明可以使用筛查试剂盒在婚前进行 PKU 筛查。PAH 基因突变谱的鉴定对于早期诊断、了解分子机制、临床随访、治疗和遗传咨询很重要。本研究发现的新变异对进一步研究也很重要。
