Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy

Odeya David; Marina Eskin-Schwartz; Galina Ling; Vadim Dolgin; Eyal Kristal; Ela Benkowitz; Lidia Osyntsov; Libe Gradstein; Ohad S. Birk; Neta Loewenthal; Baruch Yerushalmi

doi:10.1111/cge.13805

Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy

Odeya David, Marina Eskin-Schwartz, Galina Ling, Vadim Dolgin, Eyal Kristal, Ela Benkowitz, Lidia Osyntsov, Libe Gradstein, Ohad S. Birk, Neta Loewenthal, Baruch Yerushalmi

Research output: Contribution to journal › Article › peer-review

10 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	303-307
Number of pages	5
Journal	Clinical Genetics
Volume	98
Issue number	3
DOIs	https://doi.org/10.1111/cge.13805
State	Published - 1 Sep 2020

Keywords

Caroli disease
TTC26
cholestasis
ciliopathy
hypophysis
pituitary

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1111/cge.13805

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title = "Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy",

abstract = "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.",

keywords = "Caroli disease, TTC26, cholestasis, ciliopathy, hypophysis, pituitary",

author = "Odeya David and Marina Eskin-Schwartz and Galina Ling and Vadim Dolgin and Eyal Kristal and Ela Benkowitz and Lidia Osyntsov and Libe Gradstein and Birk, {Ohad S.} and Neta Loewenthal and Baruch Yerushalmi",

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year = "2020",

month = sep,

day = "1",

doi = "10.1111/cge.13805",

language = "English",

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journal = "Clinical Genetics",

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AU - David, Odeya

AU - Eskin-Schwartz, Marina

AU - Ling, Galina

AU - Dolgin, Vadim

AU - Kristal, Eyal

AU - Benkowitz, Ela

AU - Osyntsov, Lidia

AU - Gradstein, Libe

AU - Birk, Ohad S.

AU - Loewenthal, Neta

AU - Yerushalmi, Baruch

PY - 2020/9/1

Y1 - 2020/9/1

N2 - 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.

AB - 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.

KW - Caroli disease

KW - TTC26

KW - cholestasis

KW - ciliopathy

KW - hypophysis

KW - pituitary

UR - http://www.scopus.com/inward/record.url?scp=85088817005&partnerID=8YFLogxK

U2 - 10.1111/cge.13805

DO - 10.1111/cge.13805

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VL - 98

SP - 303

EP - 307

JO - Clinical Genetics

JF - Clinical Genetics

IS - 3

ER -

Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy

Abstract

Keywords

ASJC Scopus subject areas

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