2021
DOI: 10.3389/fgene.2021.694683
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Case Report: Expanding the Digenic Variants Involved in Thyroid Hormone Synthesis−10 New Cases of Congenital Hypothyroidism and a Literature Review

Abstract: Congenital hypothyroidism (CH) is the most common neonatal metabolic disorder. Although it has been understood to be a monogenic disease, some CH patients are reported to carry two or more variants at different genes. Here, ten permanent congenital hypothyroidism (PCH) patients were retrospectively reviewed, with elevated levels of serum thyroid-stimulating hormone and levothyroxine dependence during follow-up between 2015 and 2019. Each affected individual carried digenic variants, which were heterozygous at … Show more

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Cited by 2 publications
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“…With the widespread use of newborn screening programs and the application of improved molecular techniques, some THD cases have been genetically diagnosed ( 8 , 9 , 48 50 ), although the genetic heterogeneity of CH makes its diagnosis complex. To date, all reported genes with digenic variants are involved in the same metabolic pathway: thyroid hormone biosynthesis, and therefore oligogenicity, has often been proposed to underlie the intrafamilial variability seen in known genetic causes of CH, especially in association with DUOX2 mutations ( 51 ).…”
Section: Discussionmentioning
confidence: 99%
“…With the widespread use of newborn screening programs and the application of improved molecular techniques, some THD cases have been genetically diagnosed ( 8 , 9 , 48 50 ), although the genetic heterogeneity of CH makes its diagnosis complex. To date, all reported genes with digenic variants are involved in the same metabolic pathway: thyroid hormone biosynthesis, and therefore oligogenicity, has often been proposed to underlie the intrafamilial variability seen in known genetic causes of CH, especially in association with DUOX2 mutations ( 51 ).…”
Section: Discussionmentioning
confidence: 99%
“…To collect data for training purposes, we curated a dataset of pathogenic digenic combinations extracted both from DIDA 26 , from literature review [29][30][31][32] and from an internal unpublished database. Variants have been reported with their genomic coordinates and associated with the caused phenotypes expressed as Human Phenotype Ontology (HPO) terms 33 , if explicitly available.…”
Section: Dataset Description 211 Training Data Collection and Preproc...mentioning
confidence: 99%