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Multi-genic pattern found in rare type of hypopituitarism: a whole-exome sequencing study of Han Chinese with pituitary stalk interruption syndrome
- Source :
- Journal of Cellular and Molecular Medicine
- Publication Year :
- 2016
-
Abstract
- Pituitary stalk interruption syndrome (PSIS) is a rare type of hypopituitarism manifesting various degrees of pituitary hormone deficiency. Although mutations have been identified in some familial cases, the underpinning mechanisms of sporadic patients with PSIS who are in a vast majority remain elusive, necessitating a comprehensive study using systemic approaches. We postulate that other genetic mechanisms may be responsible for the sporadic PSIS. To test this hypothesis, we conducted a study in 24 patients with PSIS of Han Chinese with no family history using whole‐exome sequencing (WES) and bioinformatic analysis. We identified a group of heterozygous mutations in 92% (22 of 24) of the patients, and these genes are mostly associated with Notch, Shh, Wnt signalling pathways. Importantly, 83% (20 of 24) of the patients had more than one mutation in those pathways suggesting synergy of compound mutations underpin the pathogenesis of sporadic PSIS.
- Subjects :
- 0301 basic medicine
Adult
Male
Han chinese
Pituitary Stalk Interruption Syndrome
Adolescent
Gene Expression
Hypopituitarism
Biology
medicine.disease_cause
Bioinformatics
pituitary stalk interruption syndrome
Pathogenesis
03 medical and health sciences
Asian People
medicine
Humans
Hedgehog Proteins
Family history
Child
Gene
Exome sequencing
Genetics
Mutation
Receptors, Notch
Whole Genome Sequencing
Genome, Human
pathway
pathogenesis
Computational Biology
Cell Biology
Syndrome
Original Articles
bioinformatics
medicine.disease
Wnt Proteins
Pituitary Hormones
030104 developmental biology
Pituitary Gland
Molecular Medicine
Female
Original Article
whole‐exome sequencing
Signal Transduction
Subjects
Details
- ISSN :
- 15824934
- Volume :
- 21
- Issue :
- 12
- Database :
- OpenAIRE
- Journal :
- Journal of cellular and molecular medicine
- Accession number :
- edsair.doi.dedup.....26c4d5c6036d57aa2460fbeea52ed00c