pkd1l1相关异位的水肿胎儿:两个胎儿的报告和扩大表型和分子谱

IF 1 4区生物学 Q4 GENETICS & HEREDITY

Annals of Human Genetics Pub Date : 2021-03-02 DOI:10.1111/ahg.12417

Alec Reginald Errol Correa, Mounika Endrakanti, Kamal Naini, Madhulika Kabra, Neerja Gupta

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引用次数: 4

摘要

正常左右轴不对称的异常范围从位置反全到位置模糊或异位。已有超过80个基因被描述为在内脏器官正常位置的建立中起作用。PKD1L1基因的致病变异最近在异位和先天性心脏病中被描述。迄今为止，已有11个家族被描述为与pkd1l1相关的异交。我们描述了第一个印度家庭，他们有两个受影响的胎儿，患有pkd1l1相关的非免疫性水肿、先天性心脏病、逆位和异位，具有复合杂合状态的双等位基因变异。

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Hydrops fetalis in PKD1L1-related heterotaxy: Report of two foetuses and expanding the phenotypic and molecular spectrum

Abnormalities in the normal left–right axis asymmetry range from situs inversus totalis to situs ambiguous or heterotaxy. More than 80 genes have been described to have a role in the establishment of the normal situs of the internal organs. Pathogenic variants in the PKD1L1 gene have recently been described in heterotaxy and congenital heart disease. Till date, 11 families have been described with PKD1L1-related heterotaxy. We describe the first Indian family with two affected foetuses with PKD1L1-related nonimmune hydrops, congenital heart disease, situs inversus, and heterotaxy, with biallelic variants in the compound heterozygous state.

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来源期刊

Annals of Human Genetics 生物-遗传学

CiteScore

4.20

自引率

0.00%

发文量

审稿时长

3 months

期刊介绍： Annals of Human Genetics publishes material directly concerned with human genetics or the application of scientific principles and techniques to any aspect of human inheritance. Papers that describe work on other species that may be relevant to human genetics will also be considered. Mathematical models should include examples of application to data where possible. Authors are welcome to submit Supporting Information, such as data sets or additional figures or tables, that will not be published in the print edition of the journal, but which will be viewable via the online edition and stored on the website.