Mutations in proteasome-related genes are associated with thyroid hemiagenesis
PBN-AR
Instytucja
Instytut Chemii Bioorganicznej Polskiej Akademii Nauk
Informacje podstawowe
Główny język publikacji
en
Czasopismo
Endocrine
ISSN
0969-711X
EISSN
1559-0100
Wydawca
HUMANA PRESS INC
DOI
URL
Rok publikacji
2017
Numer zeszytu
2
Strony od-do
279-285
Numer tomu
56
Identyfikator DOI
Liczba arkuszy
Słowa kluczowe
en
Thyroid hemiagenesis
Microarray
Exome sequencing
Thyroid transcription factors
Proteasome
Open access
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Licencja otwartego dostępu
Creative Commons — Uznanie autorstwa
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Przed publikacją
Data udostępnienia w sposób otwarty
2017-04-07
Streszczenia
Język
en
Treść
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.
Inne
System-identifier
PX-591018edd5deef1f2b6a6706
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