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Mutations in proteasome-related genes are associated with thyroid hemiagenesis.

Endocrine. 2017 May;56(2):279-285. Epub 2017 Apr 07
Bartlomiej Budny 1 , Ewelina Szczepanek-Parulska 1 , Tomasz Zemojtel 2 , Witold Szaflarski 3 , Malgorzata Rydzanicz 4 , Joanna Wesoly 5 , Luiza Handschuh 6 , Kosma Wolinski 1 , Katarzyna Piatek 1 , Marek Niedziela 7 , Katarzyna Ziemnicka 1 , Marek Figlerowicz 8 , Maciej Zabel 3 , Marek Ruchala 9
Bartlomiej Budny 1 , Ewelina Szczepanek-Parulska 1 , Tomasz Zemojtel 2 , Witold Szaflarski 3 , Malgorzata Rydzanicz 4 , Joanna Wesoly 5 , Luiza Handschuh 6 , Kosma Wolinski 1 , Katarzyna Piatek 1 , Marek Niedziela 7 , Katarzyna Ziemnicka 1 , Marek Figlerowicz 8 , Maciej Zabel 3 , Marek Ruchala 9
+ et al

[No authors listed]

Author information
  • 1 Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland.
  • 2 European Center for Bioinformatics and Genomics, Institute of Bioorganic Chemistry, Polish Academy of Science, Poznan, Poland.
  • 3 Department of Histology and Embryology, Poznan University of Medical Sciences, Poznan, Poland.
  • 4 Department of Human Molecular Genetics, Institute of Molecular Biology and Biotechnology, Faculty of Biology, Adam Mickiewicz University, Poznan, Poland.
  • 5 Laboratory of High Throughput Technologies, Institute of Molecular Biology and Biotechnology, Faculty of Biology, Adam Mickiewicz University, Poznan, Poland.
  • 6 Department of Hematology and Bone Marrow Transplantation, Poznan University of Medical Sciences, Poznan, Poland.
  • 7 Department of Paediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland.
  • 8 Institute of Computing Science, Poznan University of Technology, Poznan, Poland.
  • 9 Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland. mruchala@ump.edu.pl.

摘要


PURPOSE:Human thyroid development is a complex and still unexplained process. Thyroid hemiagenesis is a congenital anomaly, where one of the thyroid lobes fails to develop. In the majority of patients with thyroid hemiagenesis, the genetic background remains unknown. The aim of the study was to search for novel genetic contributors to the etiology of thyroid hemiagenesis. METHODS:A cohort of 34 sporadic patients diagnosed with thyroid hemiagenesis and one three-generation family were subjected to comprehensive genomic examination. Initially, targeted screening of associated transcription factors, known to be linked to thyroid development, was performed. As a next step, genomic examinations were applied using high-resolution microarrays, whereas for the thyroid hemiagenesis family, additionally the whole exome sequencing was performed. RESULTS:Screening of transcription factors revealed no causative mutations in the studied cohort. Genomic examinations revealed the presence of four recurrent defects (three deletions and one duplication) affecting highly conservative proteasome genes PSMA1, PSMA3, and PSMD3. In a thyroid hemiagenesis family a splice site mutation in a proteasome gene PSMD2 (c.612T > C cDNA.1170T > C, g.3271T > C) was found in both affected mother and daughter. CONCLUSIONS:Our results shed a new light on etiology of thyroid hemiagenesis, so far suspected to be linked only to mutations in the genes directly involved in the thyroid development. We demonstrated, for the first time, that genomic alterations in proteasome-associated genes co-occur in patients presenting this developmental anomaly.

KEYWORDS: Exome sequencing, Microarray, Proteasome, Thyroid hemiagenesis, Thyroid transcription factors