Mutation Screening and Functional Study of < em > SLC26A4 < /em > in Chinese Patients with Congenital Hypothyroidism

CONCLUSION: Our study indicated that the prevalence of SLC26A4 mutations was 3.66% in the Chinese patients with CH. Five mutations (p.I363L, p.R409H, p.T485M, p.D661E and p.H723R) impaired the membrane location or ion transport function of SLC26A4，which revealed important role of the Ile363,Arg409, Thr485, Asp661, His723 residues in function of SLC26A4. Because these mutations are heterozygous mutations, the pathogenesis of these patients cannot be explained, and the pathogenesis of these patients needs further study.PMID:34545167 | DOI:10.4274/jcrpe.galenos.2021.2021.0122
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Authors: Source Type: research