Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy.,Clinical Genetics

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Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy.
Clinical Genetics ( IF 2.9 ) Pub Date : 2020-07-02 , DOI: 10.1111/cge.13805
Odeya David _{1,

2,

3} , Marina Eskin-Schwartz _{3,

4} , Galina Ling _{2,

3,

5} , Vadim Dolgin ₄ , Eyal Kristal ₂ , Ela Benkowitz ₆ , Lidia Osyntsov ₇ , Libe Gradstein _{4,

8} , Ohad S Birk ₄ , Neta Loewenthal _{1,

2,

3} , Baruch Yerushalmi _{2,

3,

5}

Affiliation

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.

中文翻译：

垂体柄中断综合征扩大了TTC26睫状体病的临床范围。

小儿麻痹是与睫状功能异常有关的异类疾病。由TTC26中的双等位基因突变引起的严重胆汁性纤毛病最近已在多发性和严重新生儿胆汁淤积综合症，脑，肾和心脏受累的背景下进行了描述。先前没有报道患有这种情况的患者垂体受累。垂体柄中断综合征（PSIS）是垂体的先天性异常，可通过特征性MRI发现进行诊断。我们现在描述4名因纯合c.695A> G p.Asn232Ser突变而患有TTC26睫状体病的患者，并描述了PSIS作为该疾病的一种新的临床特征，突出了TTC26在垂体发育中的重要作用。

更新日期：2020-08-27

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