WDFY3单倍不全与常染色体显性神经发育障碍和大头畸形有关

IF 2.9 3区医学 Q2 GENETICS & HEREDITY

Clinical Genetics Pub Date : 2024-11-29 DOI:10.1111/cge.14665

Ludovico Graziani, Miriam Lucia Carriero, Valentina Ferradini, Chiara Conte, Mario Bengala, Federica Carla Sangiuolo, Giuseppe Novelli

引用次数: 0

摘要

WDFY3 （MIM#617485）缺陷可能表现为神经发育障碍（ndd），并基于等位基因效应对脑大小产生相反的影响。该病例突出了与轻度至中度ndd、大头畸形和独特面部特征相关的杂合WDFY3无义变异。研究结果强调了外显子组测序对ndd的准确诊断和临床管理的重要性。

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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WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly.

WDFY3 (MIM#617485) defects may manifest neurodevelopmental disorders (NDDs) and opposite effects on brain size based on allelic effect. This case highlights a heterozygous WDFY3 nonsense variant linked to mild-to-moderate NDDs, macrocephaly, and unique facial features. Findings emphasize the importance of exome sequencing in NDDs for accurate diagnosis and clinical management.

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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