Pituitary stalk interruption syndrome broadens the clinical spectrum of theTTC26ciliopathy

被引：10

作者：

David, Odeya ^{[1
,2
,3
]}

Eskin-Schwartz, Marina ^{[3
,4
,5
,6
]}

Ling, Galina ^{[2
,3
,7
]}

Dolgin, Vadim ^{[4
,5
,6
]}

Kristal, Eyal ^{[2
]}

Benkowitz, Ela ^{[8
]}

Osyntsov, Lidia ^{[9
]}

Gradstein, Libe ^{[4
,5
,6
,10
]}

Birk, Ohad S. ^{[4
,5
,6
]}

Loewenthal, Neta ^{[1
,2
,3
]}

Yerushalmi, Baruch ^{[2
,3
,7
]}

机构：

[1] Soroka Univ, Pediat Endocrinol Unit, Med Ctr, Beer Sheva, Israel

[2] Soroka Univ, Saban Pediat Med Ctr Israel, Med Ctr, Beer Sheva, Israel

[3] Ben Gurion Univ Negev, Fac Hlth Sci, Beer Sheva, Israel

[4] Soroka Univ, Genet Inst, Med Ctr, Beer Sheva, Israel

[5] Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, Natl Ctr Rare Dis, Fac Hlth Sci, Beer Sheva, Israel

[6] Ben Gurion Univ Negev, Natl Inst Biotechnol Negev, Beer Sheva, Israel

[7] Soroka Univ, Pediat Gastroenterol Unit, Med Ctr, Beer Sheva, Israel

[8] Soroka Med Ctr, Radiol Dept, Beer Sheva, Israel

[9] Soroka Med Ctr, Inst Pathol, Beer Sheva, Israel

[10] Clalit Hlth Serv, Ophthalmol Clin, Beer Sheva, Israel

来源：

CLINICAL GENETICS | 2020年 / 98卷 / 03期

基金：

以色列科学基金会;

关键词：

Caroli disease; cholestasis; ciliopathy; hypophysis; pituitary; TTC26; MUTATIONS; GENES;

D O I：

10.1111/cge.13805

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Ciliopathies are a heterogeneous group of disorders, related to abnormal ciliary function. Severe biliary ciliopathy, caused by bi-allelic mutations inTTC26, 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 withTTC26ciliopathy 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.

引用

页码：303 / 307

页数：5

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