Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism.

ABSTRACT: Congenital hypothyroidism (CH) is due to dyshormonogenesis in 10% to 15% of subjects worldwide but accounts for 60% of CH cases in the Sudan. To investigate the molecular basis of CH in Sudanese families. Clinical phenotype reporting and serum thyroid hormone measurements. Deoxyribonucelic acid extraction for whole-exome sequencing and Sanger sequencing. University research center. Twenty-six Sudanese families with CH. Clinical evaluation, thyroid function tests, genetic sequencing, and analysis. Our samples and information regarding samples from the literature were used to compare TG (thyroglobulin) and TPO (thyroid peroxidase) mutation rates in the Sudanese population with all populations. Mutations were found in dual-oxidase 1 (DUOX1), dual-oxidase 2 (DUOX2), iodotyrosine deiodinase (IY

SUBMITTER: Bruellman RJ 

PROVIDER: S-EPMC7093074 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature