一种与Milroy病相关的FLT4 C . 3028a >C新变异的鉴定

IF 2.9 3区医学 Q2 GENETICS & HEREDITY

Clinical Genetics Pub Date : 2024-12-18 DOI:10.1111/cge.14671

Aygiz Feiskhanov, Aigul Ibragimova, Elina Gaysina, Eugenia Boulygina, Albert Rizvanov, Regina Miftakhova, Yulia Filina

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引用次数: 0

摘要

VEGFR3 （FLT4）对胚胎淋巴管生成至关重要，该受体的缺陷可导致1A型先天性淋巴水肿（Milroy病）。本研究分析了24例原发性淋巴水肿患者的FLT4基因序列，确定了5例与典型Milroy病相似的基因变异。发现了一种新的可能的致病变异（C . 3028a >C），并支持了先前描述的两种变异（C . 3175g >C和C . 3298t >C）的致病性。

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Identification of a Novel FLT4 c.3028A>C Variant Associated With Milroy Disease.

VEGFR3 (FLT4) is crucial for embryonic lymphangiogenesis, and defects in this receptor can lead to congenital lymphedema type 1A (Milroy disease). This study analyses FLT4 gene sequence in 24 primary lymphedema patients, identifying genetic variants in five patients resembling typical Milroy disease. A novel likely pathogenic variant (c.3028A>C) was identified, and the pathogenicity of two previously described variants (c.3175G>C and c.3298T>C) was supported.

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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