扩展 ABL1 缺乏综合征的表型：当不同同工酶突变导致不同疾病时

IF 2.9 3区医学 Q2 GENETICS & HEREDITY

Clinical Genetics Pub Date : 2024-08-18 DOI:10.1111/cge.14609

Eliane Chouery, Cybel Mehawej, Aline Mansour, Sandra Corbani, Rima Korban, Richard Zalloum, Andre Megarbane

引用次数: 0

摘要

所有已报道的 ABL1 功能增益和功能缺失（LOF）变异都会影响异构体 1a 和 1b。我们的研究结果表明，仅影响 ABL1 同工酶 1b 的 LOF 变异可能会导致一种独特的常染色体隐性新表型。

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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Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases.

All reported ABL1 gain of function and loss of function (LOF) variants, impact both isoforms 1a and 1b. Our findings suggest that LOF variants affecting solely ABL1 isoform 1b may lead to a distinct autosomal recessive new phenotype.

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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