在比利时人群中，局灶性面部皮肤发育不良（FFDD） IV型的意外高患病率与奠基者效应有关。

IF 2.9 3区医学 Q2 GENETICS & HEREDITY

Clinical Genetics Pub Date : 2025-01-19 DOI:10.1111/cge.14705

Aude Beyens, Stefanie Van De Voorde, Marta Guerreiro Santano Ramos Da Silva, Sofie De Meulemeester, Koen Devriendt, Marleen Goeteyn, Sandra Janssens, R Frank Kooy, Toon Rosseel, Sofie Symoens, Frederik Jan Hes, Kathelijn Keymolen, Boyan Dimitrov, Bert Callewaert

{"title":"在比利时人群中，局灶性面部皮肤发育不良（FFDD） IV型的意外高患病率与奠基者效应有关。","authors":"Aude Beyens, Stefanie Van De Voorde, Marta Guerreiro Santano Ramos Da Silva, Sofie De Meulemeester, Koen Devriendt, Marleen Goeteyn, Sandra Janssens, R Frank Kooy, Toon Rosseel, Sofie Symoens, Frederik Jan Hes, Kathelijn Keymolen, Boyan Dimitrov, Bert Callewaert","doi":"10.1111/cge.14705","DOIUrl":null,"url":null,"abstract":"Focal facial dermal dysplasia (FFDD) type IV is a rare inherited facial defect caused by biallelic variants in CYP26C1. This study reports two novel Belgian FFDD type IV cases, both homozygous for a recurrent CYP26C1 frameshift variant, with a common 700 kb haplotype, indicating a founder effect.","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":" ","pages":""},"PeriodicalIF":2.9000,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population.\",\"authors\":\"Aude Beyens, Stefanie Van De Voorde, Marta Guerreiro Santano Ramos Da Silva, Sofie De Meulemeester, Koen Devriendt, Marleen Goeteyn, Sandra Janssens, R Frank Kooy, Toon Rosseel, Sofie Symoens, Frederik Jan Hes, Kathelijn Keymolen, Boyan Dimitrov, Bert Callewaert\",\"doi\":\"10.1111/cge.14705\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Focal facial dermal dysplasia (FFDD) type IV is a rare inherited facial defect caused by biallelic variants in CYP26C1. This study reports two novel Belgian FFDD type IV cases, both homozygous for a recurrent CYP26C1 frameshift variant, with a common 700 kb haplotype, indicating a founder effect.\",\"PeriodicalId\":10354,\"journal\":{\"name\":\"Clinical Genetics\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.9000,\"publicationDate\":\"2025-01-19\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1111/cge.14705\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/cge.14705","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

摘要

局灶性面部真皮发育不良（FFDD） IV型是一种罕见的遗传性面部缺陷，由CYP26C1双等位基因变异引起。本研究报告了两例新的比利时FFDD IV型病例，均为复发性CYP26C1移码变体纯合，具有共同的700 kb单倍型，表明建立者效应。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population.

Focal facial dermal dysplasia (FFDD) type IV is a rare inherited facial defect caused by biallelic variants in CYP26C1. This study reports two novel Belgian FFDD type IV cases, both homozygous for a recurrent CYP26C1 frameshift variant, with a common 700 kb haplotype, indicating a founder effect.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

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