从无症状母亲遗传的CAMTA1无意义变异：先天性共济失调的极端可变表达。

IF 2.3 3区医学 Q2 GENETICS & HEREDITY

Clinical Genetics Pub Date : 2025-09-08 DOI:10.1111/cge.70065

So Young Lee, Jun Hwan Choi, Hyun Jung Lee

引用次数: 0

摘要

携带CAMTA1 c.1544C . > a的母亲完全没有症状，与她儿子的严重先天性共济失调形成对比。16个月早期干预导致异常恢复（GMFM-88: 56.5%→96%），显示camta1相关疾病中前所未有的家族内变变性和神经可塑性潜力。

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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CAMTA1 Nonsense Variant Inherited From Asymptomatic Mother: Extremely Variable Expressivity in Congenital Ataxia.

Complete absence of symptoms in a mother carrying CAMTA1 c.1544C>A contrasts with severe congenital ataxia in her son. Early intervention at 16 months led to exceptional recovery (GMFM-88: 56.5% → 96%), demonstrating unprecedented intrafamilial variability and neuroplasticity potential in CAMTA1-related disorders.

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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