Compound heterozygous GLI3 variants in siblings with thyroid hemiagenesis.

Endocrine
Ewelina Szczepanek-ParulskaMarek Ruchała

Abstract

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. 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. 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 0.00713...Continue Reading

References

Aug 11, 1999·Human Molecular Genetics·M Kalff-SuskeK H Grzeschik
Apr 28, 2004·The American Journal of Pathology·Henrik FagmanMikael Nilsson
Sep 11, 2014·Annals of Neurosciences·Zia ChoudhryNusrat Jahan Mobassarah
Jan 23, 2016·Journal of Human Genetics·Steven DeimlingSevan Hopyan
Mar 16, 2016·Archivum Immunologiae Et Therapiae Experimentalis·Ewelina Szczepanek-ParulskaMarek Ruchała
Apr 9, 2017·Endocrine·Bartlomiej BudnyMarek Ruchala
Jul 2, 2017·The Journal of Clinical Endocrinology and Metabolism·Ewelina Szczepanek-ParulskaMarek Ruchala
Sep 25, 2017·Endocrinology·Allison M OsmundsenShannon W Davis
Dec 18, 2018·Frontiers in Endocrinology·Giuditta RuraleFederica Marelli
Aug 23, 2019·Clinical Genetics·Catia MioGiuseppe Damante
Oct 2, 2019·Genetic Testing and Molecular Biomarkers· AbdullahWasim Ahmad
Dec 5, 2019·Thyroid : Official Journal of the American Thyroid Association·Giuditta RuraleLuca Persani
Apr 5, 2020·Cell Communication and Signaling : CCS·Stephan J Matissek, Sherine F Elsawa

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Methods Mentioned

BETA
biopsy

Software Mentioned

BWA
PhyloP
phastCons
GATK
GnomAD
Picard
PolyPhen2
FATHMM
Sift
MutationTaster

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