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Tytuł pozycji:

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.

Tytuł:
Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.
Autorzy:
Brauner R; Fondation Ophtalmologique Adolphe de Rothschild and Université Paris Descartes, Paris, France.
Bignon-Topalovic J; Human Developmental Genetics Unit, Institute Pasteur, Paris, France.
Bashamboo A; Human Developmental Genetics Unit, Institute Pasteur, Paris, France.
McElreavey K; Human Developmental Genetics Unit, Institute Pasteur, Paris, France.
Źródło:
PloS one [PLoS One] 2020 Dec 03; Vol. 15 (12), pp. e0242358. Date of Electronic Publication: 2020 Dec 03 (Print Publication: 2020).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
Język:
English
Imprint Name(s):
Original Publication: San Francisco, CA : Public Library of Science
MeSH Terms:
Genetic Association Studies*
Genetic Predisposition to Disease*
Nerve Tissue Proteins/*genetics
Pituitary Diseases/*genetics
Child ; Child, Preschool ; Dwarfism/epidemiology ; Dwarfism/genetics ; Dwarfism/pathology ; Female ; Genetic Heterogeneity ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation/genetics ; Pituitary Diseases/epidemiology ; Pituitary Diseases/pathology ; Pituitary Gland/metabolism ; Pituitary Gland/pathology
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Substance Nomenclature:
0 (Nerve Tissue Proteins)
Entry Date(s):
Date Created: 20201203 Date Completed: 20210115 Latest Revision: 20210115
Update Code:
20240104
PubMed Central ID:
PMC7714207
DOI:
10.1371/journal.pone.0242358
PMID:
33270637
Czasopismo naukowe
Pituitary stalk interruption syndrome is a rare disorder characterized by an absent or ectopic posterior pituitary, interrupted pituitary stalk and anterior pituitary hypoplasia, as well as in some cases, a range of heterogeneous somatic anomalies. A genetic cause is identified in only around 5% of all cases. Here, we define the genetic variants associated with PSIS followed by the same pediatric endocrinologist. Exome sequencing was performed in 52 (33 boys and 19 girls), including 2 familial cases single center pediatric cases, among them associated 36 (69.2%) had associated symptoms or syndromes. We identified rare and novel variants in genes (37 families with 39 individuals) known to be involved in one or more of the following-midline development and/or pituitary development or function (BMP4, CDON, GLI2, GLI3, HESX1, KIAA0556, LHX9, NKX2-1, PROP1, PTCH1, SHH, TBX19, TGIF1), syndromic and non-syndromic forms of hypogonadotropic hypogonadism (CCDC141, CHD7, FANCA, FANCC, FANCD2, FANCE, FANCG, IL17RD, KISS1R, NSMF, PMM2, SEMA3E, WDR11), syndromic forms of short stature (FGFR3, NBAS, PRMT7, RAF1, SLX4, SMARCA2, SOX11), cerebellum atrophy with optic anomalies (DNMT1, NBAS), axonal migration (ROBO1, SLIT2), and agenesis of the corpus callosum (ARID1B, CC2D2A, CEP120, CSPP1, DHCR7, INPP5E, VPS13B, ZNF423). Pituitary stalk interruption syndrome is characterized by a complex genetic heterogeneity, that reflects a complex phenotypic heterogeneity. Seizures, intellectual disability, micropenis or cryptorchidism, seen at presentation are usually considered as secondary to the pituitary deficiencies. However, this study shows that they are due to specific gene mutations. PSIS should therefore be considered as part of the phenotypic spectrum of other known genetic syndromes rather than as specific clinical entity.
Competing Interests: The authors have declared that no competing interests exist.
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