Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy.
Caroli disease
TTC26
cholestasis
ciliopathy
hypophysis
pituitary
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
05
04
2020
revised:
27
06
2020
accepted:
27
06
2020
pubmed:
4
7
2020
medline:
13
7
2021
entrez:
4
7
2020
Statut:
ppublish
Résumé
Ciliopathies are a heterogeneous group of disorders, related to abnormal ciliary function. Severe biliary ciliopathy, caused by bi-allelic mutations in TTC26, has been recently described in the context of a syndrome of polydactyly and severe neonatal cholestasis, with brain, kidney and heart involvement. Pituitary involvement has not been previously reported for patients with this condition. Pituitary stalk interruption syndrome (PSIS) is a congenital anomaly of the pituitary gland, diagnosed by characteristic MRI findings. We now describe four patients with TTC26 ciliopathy due to a homozygous c.695A>G p.Asn232Ser mutation and delineate PSIS as a novel clinical feature of this disorder, highlighting an important role of TTC26 in pituitary development.
Substances chimiques
Intracellular Signaling Peptides and Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
303-307Informations de copyright
© 2020 John Wiley & Sons A/S . Published by John Wiley & Sons Ltd.
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