Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population.

ABSTRACT: Congenital hypothyroidism (CH) is a common neonatal endocrine disorder that is characterized by irreversible neurodevelopmental and growth retardation due to insufficient biosynthesis of thyroid hormones at birth. Determining the causative genetic variants in infants is important for neonatal management. It was aimed to evaluate the variant frequencies and spectrum of CH in the neonatal population of Foshan, China. A total of 105 unrelated patients with CH and 138 controls from a neonatal screening program in Foshan, China were selected. A multiplex PCR amplification-based capture panel was performed which targeted the exon regions of 30 CH-related genes. Next-generation sequencing data were processed using an in-house bioinformatics system. A total of 91 variants distributed across 16 gen

SUBMITTER: Huang X 

PROVIDER: S-EPMC11668128 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature