Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Purpose: Thyroid hemiagenesis (THA) is an inborn absence of one thyroid lobe of largely unknown etiopathogenesis, affecting 0.05-0.5% population. The aim of the study was an identification of genetic factors responsible for thyroid maldevelopment in two siblings with THA.
Methods: We evaluated a three-generation THA family with two sisters presenting the disorder. Proband (Patient II:3) was diagnosed at the age of 45 due to neck asymmetry. Left lobe agenesis and nontoxic multinodular goiter were depicted. Proband's sister (Patient II:6) was euthyroid, showed up at the age of 39 due to neck discomfort and left-sided THA was demonstrated. Affected individuals were subjected to whole-exome sequencing (WES) (Illumina, TruSeq Exome Kit) and all identified variants were evaluated for pathogenicity. Sanger sequencing was used to confirm WES data and check segregation among first-degree relatives.
Results: In both siblings, a compound heterozygous mutations NM_000168.6: c.[2179G>A];[4039C>A] (NP_000159.3: p.[Gly727Arg];[Gln1347Lys]) were identified in the GLI3 gene, affecting exon 14 and 15, respectively. According to the American College of Medical Genetics, variants are classified as of uncertain significance, and were found to be very rare (GnomAD MAF 0.007131 and 0.00003187). The segregation mapping and analysis of relatives indicated causativeness of compound heterozygosity.
Conclusions: We demonstrated for the first time a unique association of THA phenotype and the presence of compound heterozygous mutations p.[Gly727Arg];[Gln1347Lys] of GLI3 gene in two siblings.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7881956 | PMC |
| http://dx.doi.org/10.1007/s12020-020-02422-1 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Truncating Mutations in BBS10 and BBS12 Impair Proteostasis and Ciliary Architecture in Bardet-Biedl Syndrome.
Exp Eye Res
September 2025
Department of Ophthalmology, Zhengzhou University People's Hospital, Henan Provincial People's Hospital, Henan Eye Hospital, Zhengzhou, Henan, China; Henan Key Laboratory of Ophthalmology and Visual Science, Henan Eye Hospital, Henan Provincial People's Hospital, Zhengzhou, Henan, China; Eye institu
Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by genetic heterogeneity. Despite significant progress in understanding the BBSome-coding genes associated with ciliopathies, the pathogenesis linked to mutations in chaperonin-coding genes (BBS6, BBS10, and BBS12) remains poorly defined. This study aims to confirm the genetic diagnosis of BBS and elucidate the pathological mechanisms in causative genes of BBS10 and BBS12.
View Article and Find Full Text PDFExpansion of genotype/phenotype correlation in an individual with compound heterozygous variants in CYP51A1 and congenital cataract.
Mol Genet Metab
September 2025
Greenwood Genetic Center, Greenwood, SC 29646, United States of America. Electronic address:
Numerous genetic conditions are represented within the biochemical pathway for de novo cholesterol biosynthesis. Among the emerging disease-gene associations is CYP51A1, encoding a lanosterol demethylase enzyme. Biallelic variants in CYP51A1 have been associated with congenital cataracts and variable liver disease but an appreciation of genotype/phenotype correlation is lacking due to the limited number of patients described.
View Article and Find Full Text PDFUnraveling the pathogenicity role of the novel compound heterozygous mutations of MED25 gene in a Chinese patient with BVSYS.
Front Genet
August 2025
Department of Basic Medicine, School of Medicine, Jingchu University of Technology, Jingmen, China.
Introduction: Mediator of RNA polymerase II transcription subunit 25 (), a crucial component of the transcriptional coactivator complex, plays a significant role in the transcription of most RNA polymerase II-dependent genes. Mutations in have been linked to various genetic syndromes, including Basel-Vanagaite-Smirin-Yosef Syndrome (BVSYS) and Intellectual Disability (ID). This study elucidated the molecular mechanism through which compound heterozygous mutations in the gene impaired pre-mRNA splicing, ultimately causing BVSYS.
View Article and Find Full Text PDFCase Report: spontaneous mutation in a familial hemophagocytic lymphohistiocytosis patient with a complex heterozygous mutation in .
Front Immunol
September 2025
Department of Hematology, Qingdao Women and Children's Hospital, Qingdao, China.
Familial hemophagocytic lymphohistiocytosis type 2 (FHL2), caused by perforin 1 (PRF 1), is a rare and fatal autosomal recessive disorder characterized by a hyperinflammatory syndrome and the accumulation of activated T lymphocytes and histiocytes in the reticuloendothelial system. Autoimmune lymphoproliferative syndrome (ALPS) is an autoimmune disease that typically presents in children with lymphadenopathy, splenomegaly, and cytopenias or lymphomas. We report a case of a 9-year-old boy who was newly diagnosed with FHL, carrying a new type of compound heterozygous mutations (c.
View Article and Find Full Text PDFCase Report: Prenatal diagnosis of gastrointestinal defects and immunodeficiency syndrome caused by compound heterozygous mutations in TTC7A gene.
Front Immunol
September 2025
Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Gastrointestinal defects and immunodeficiency syndrome (GIDID) is a rare and complex disorder characterized by concurrent dysfunction of the digestive and immune systems. Typically manifesting in infancy or early childhood, GIDID carries a severe prognosis with high early mortality rates. The syndrome has been specifically linked to mutations in the TTC7A gene located on chromosome 2p21.
View Article and Find Full Text PDF