ArticleBiomedical reports2025
Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population.
Article in Biomedical reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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 genes were identified in 74.29% (78/105) of the patients, of which 16 were novel variants and 75 were known variants. The most frequently mutated gene was
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