Whole Exome Sequencing in Patients With Ectopic Posterior Pituitary.
HESX1
ROBO1
combined pituitary hormone deficiency
ectopic posterior pituitary
exome sequencing
midline defects
pituitary stalk interruption syndrome
Journal
Journal of the Endocrine Society
ISSN: 2472-1972
Titre abrégé: J Endocr Soc
Pays: United States
ID NLM: 101697997
Informations de publication
Date de publication:
01 Oct 2022
01 Oct 2022
Historique:
received:
03
06
2022
entrez:
31
8
2022
pubmed:
1
9
2022
medline:
1
9
2022
Statut:
epublish
Résumé
Ectopic posterior pituitary (EPP), a condition in which the posterior pituitary gland is displaced due to defective neuronal migration, is frequently associated with hypopituitarism. Genetic variants play a role, but many cases remain unexplained. A large EPP cohort was studied to explore the importance of genetic variants and how they correlate with clinical findings. Whole exome sequencing was performed on a discovery sample of 27 cases to identify rare variants. The variants that met the criteria for rarity and biological relevance, or that were previously associated with EPP ( We identified 16 different variants in 12 genes in 15 of the 78 cases (19.2%). Complete anterior pituitary deficiency was twice as common in cases with variants of interest compared to cases without variants (9/15 [60%] vs 19/63 [30.1%], respectively; Z test, EPP cases with variants of interest identified in this study were more likely to present with severe clinical disease. Several variants were identified in genes not previously associated with EPP. Our findings confirm that EPP is a multigenic disorder. Future studies are needed to identify additional genes.
Identifiants
pubmed: 36042976
doi: 10.1210/jendso/bvac116
pii: bvac116
pmc: PMC9419495
doi:
Types de publication
Journal Article
Langues
eng
Pagination
bvac116Informations de copyright
Published by Oxford University Press on behalf of the Endocrine Society 2022.
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