NBPF9 Gene May Be Involved in Congenital Hypopituitarism: A Whole-Genome Study of a Boy with Pituitary Stalk Interruption Syndrome and His Family
Joint Authors
Wang, Cheng-Zhi
Guo, Ling-Ling
Guo, Qing-Hua
Mu, Yi-Ming
Source
International Journal of Endocrinology
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-07-18
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
Pituitary stalk interruption syndrome (PSIS) is a rare congenital defect manifesting as various degrees of anterior pituitary hormone deficiency.
Scattered familial cases have been found, revealing some genetic variants.
However, most of the previous research studies involved an affected sibling, and the gene spectra of the patients’ entire family have rarely been reported.
We conducted a study of a family consisting of a PSIS patient with his unaffected sibling and healthy parents of Han Chinese background using whole-genome sequencing.
Bioinformatic analysis was carried out, and mutations related to PSIS, single-nucleotide variants (SNVs), insertion-deletion (InDELs), and structural variations (SVs) in all the four samples were filtered.
After Sanger sequencing, we confirmed the variants obtained and selected three candidate genes for functional verification.
The gene variations in this boy with PSIS and his lineal relatives are reported herein; de novo sequencing revealed that the NBPF9 gene may be involved in the pathogenesis of PSIS.
American Psychological Association (APA)
Wang, Cheng-Zhi& Guo, Ling-Ling& Guo, Qing-Hua& Mu, Yi-Ming. 2020. NBPF9 Gene May Be Involved in Congenital Hypopituitarism: A Whole-Genome Study of a Boy with Pituitary Stalk Interruption Syndrome and His Family. International Journal of Endocrinology،Vol. 2020, no. 2020, pp.1-9.
https://search.emarefa.net/detail/BIM-1170366
Modern Language Association (MLA)
Wang, Cheng-Zhi…[et al.]. NBPF9 Gene May Be Involved in Congenital Hypopituitarism: A Whole-Genome Study of a Boy with Pituitary Stalk Interruption Syndrome and His Family. International Journal of Endocrinology No. 2020 (2020), pp.1-9.
https://search.emarefa.net/detail/BIM-1170366
American Medical Association (AMA)
Wang, Cheng-Zhi& Guo, Ling-Ling& Guo, Qing-Hua& Mu, Yi-Ming. NBPF9 Gene May Be Involved in Congenital Hypopituitarism: A Whole-Genome Study of a Boy with Pituitary Stalk Interruption Syndrome and His Family. International Journal of Endocrinology. 2020. Vol. 2020, no. 2020, pp.1-9.
https://search.emarefa.net/detail/BIM-1170366
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1170366