De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes
De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes
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DOI：
10.1038/s41439-020-0107-1
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发表时间：
2020-06
影响因子：
1.5
通讯作者：
Yuto Kondo;Kohei Aoyama;Hisato Suzuki;A. Hattori;Ikumi Hori;Koichi Ito;Aya Yoshida;Mari Koroki;K. Ueda;K. Kosaki;S. Saitoh
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文献类型：
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作者：
Yuto Kondo;Kohei Aoyama;Hisato Suzuki;A. Hattori;Ikumi Hori;Koichi Ito;Aya Yoshida;Mari Koroki;K. Ueda;K. Kosaki;S. Saitoh
我们报告了一名发育迟缓、身材极矮、手小、面部特征畸形、听力损失和癫痫的患者，该患者携带 2q36.3q37.1 的从头 2.76-Mb 缺失，包括 TRIP12 和 NPPC。TRIP12 单倍剂量不足会导致发育迟缓，并伴有孤立的畸形面部特征，而 NPC 单倍剂量不足会导致身材矮小和手小。这是第一份关于独特表型的报告，该表型继发于包含 TRIP12 和 NPPC 的微缺失。
We report a patient with developmental delay, extremely short stature, small hands, dysmorphic facial features, hearing loss, and epilepsy carrying a de novo 2.76-Mb deletion of 2q36.3q37.1, includingTRIP12andNPPC.TRIP12haploinsufficiency causes developmental delay with isolated dysmorphic facial features, whereasNPPChaploinsufficiency causes short stature and small hands. This is the first report of a unique phenotype, which is secondary to a microdeletion encompassingTRIP12andNPPC.