A Further Case Supporting CCNK as a Neurodevelopmental Disease Gene.

IF 2.3 3区医学 Q2 GENETICS & HEREDITY

Clinical Genetics Pub Date : 2025-10-16 DOI:10.1111/cge.70093

Clara Xiol, Jonathan Olival, Loreto Martorell, Juan Darío Ortigoza-Escobar

引用次数: 0

Abstract

De novo CCNK missense variant associated with mild intellectual disability, subtle dysmorphism (hypertelorism, depressed/broad nasal bridge), and ventriculomegaly. This case broadens the clinical spectrum of CCNK-related neurodevelopmental disease and supports cyclin K as a disease gene; imaging and phenotype suggest a milder presentation compared with deletions.

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支持CCNK作为神经发育疾病基因的又一病例

新生CCNK错义变异与轻度智力残疾、轻微畸形（远端畸形、鼻桥凹陷/宽）和脑室肿大相关。该病例拓宽了ccnk相关神经发育疾病的临床谱系，支持了细胞周期蛋白K作为一种疾病基因；与缺失相比，影像学和表型显示较轻的表现。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical Genetics 医学-遗传学

CiteScore

6.50

自引率

0.00%

发文量

175

审稿时长

3-8 weeks

期刊介绍： Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease