2020

International Journal of Molecular Sciences

Rocznik: 2020 | Tom: 21 | Numer: 16

artykuł naukowy

angielski

EN Combined pituitary hormone deficiency represents a disorder with complex etiology. For many patients, causes of the disease remain unexplained, despite usage of advanced genetic testing. Although major and common transcription factors were identified two decades ago, we still struggle with identification of rare inborn factors contributing to pituitary function. In this report, we follow up genomic screening of CPHD patient cohort that were previously tested for changes in a coding sequences of genes with the use of the whole exome. We aimed to find contribution of rare copy number variations (CNVs). As a result, we identified genomic imbalances in 7 regions among 12 CPHD patients. Five out of seven regions showed copy gains whereas two presented losses of genomic fragment. Three regions with detected gains encompassed known CPHD genes namelyLHX4, HESX1, andOTX2. Among new CPHD loci, the most interesting seem to be the region coveringSIX3gene, that is abundantly expressed in developing brain, and together withHESX1contributes to pituitary organogenesis as it was evidenced before in functional studies. In conclusion, with the use of broadened genomic approach we identified copy number imbalances for 12 CPHD patients. Although further functional studies are required in order to estimate its true impact on expression pattern during pituitary organogenesis and CPHD etiology.

5757

10.3390/ijms21165757

https://www.mdpi.com/1422-0067/21/16/5757/pdf

CC BY-ND (uznanie autorstwa - bez utworów zależnych)

ostateczna wersja opublikowana

08.2020

w momencie opublikowania

140

140