A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus.

IF 0.9 4区医学 Q4 GENETICS & HEREDITY Molecular Syndromology Pub Date : 2025-02-01 Epub Date: 2024-08-13 DOI:10.1159/000540314

Gülnihal Bulut, Gözde Tutku Turgut, Güven Toksoy, Umut Altunoğlu, Ayça Dilruba Aslanger, Zehra Oya Uyguner, Birsen Karaman

{"title":"A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus.","authors":"Gülnihal Bulut, Gözde Tutku Turgut, Güven Toksoy, Umut Altunoğlu, Ayça Dilruba Aslanger, Zehra Oya Uyguner, Birsen Karaman","doi":"10.1159/000540314","DOIUrl":null,"url":null,"abstract":"Introduction: Sandestig-Stefanova syndrome (MIM:618804) is characterized by pre- and postnatal microcephaly, trigonocephaly, bilateral congenital cataracts, microphthalmia, cleft lip and palate or high-arched palate, camptodactyly, rocker-bottom feet, heart anomalies, periventricular white matter loss, thin corpus callosum, and delayed myelination. Bi-allelic loss-of-function variants in the Nucleoporin 188 (NUP188) (MIM:615587) gene are implicated in the etiology.Case presentation: Our patient, born to consanguineous parents, presented with tetralogy of Fallot, bilateral congenital cataracts, hydrocephalus, a bifid uvula, a right pelvic kidney, hepatomegaly, facial feature findings, and a history of a similarly affected ex-sibling. Whole exome sequence analysis in the index case revealed a novel homozygous variant NM_015354.2: c.124C>T/p.(Arg42Ter) in the NUP188 gene.Conclusion: This study describes a new patient with Sandestig-Stefanova syndrome harboring a novel pathogenic variant in the NUP188 gene.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"16 1","pages":"69-76"},"PeriodicalIF":0.9000,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11793897/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Syndromology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1159/000540314","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/8/13 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

Abstract

Introduction: Sandestig-Stefanova syndrome (MIM:618804) is characterized by pre- and postnatal microcephaly, trigonocephaly, bilateral congenital cataracts, microphthalmia, cleft lip and palate or high-arched palate, camptodactyly, rocker-bottom feet, heart anomalies, periventricular white matter loss, thin corpus callosum, and delayed myelination. Bi-allelic loss-of-function variants in the Nucleoporin 188 (NUP188) (MIM:615587) gene are implicated in the etiology.

Case presentation: Our patient, born to consanguineous parents, presented with tetralogy of Fallot, bilateral congenital cataracts, hydrocephalus, a bifid uvula, a right pelvic kidney, hepatomegaly, facial feature findings, and a history of a similarly affected ex-sibling. Whole exome sequence analysis in the index case revealed a novel homozygous variant NM_015354.2: c.124C>T/p.(Arg42Ter) in the NUP188 gene.

Conclusion: This study describes a new patient with Sandestig-Stefanova syndrome harboring a novel pathogenic variant in the NUP188 gene.

Abstract Image

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

sandege - stefanova综合征伴脑积水的一种新的截断变异。

简介：sandeti - stefanova综合征（MIM:618804）的特征是产前和产后小头畸形、三角头畸形、双侧先天性白内障、小眼、唇腭裂或高弓腭、camptodacly、rockbottom足、心脏异常、心室周围白质丢失、胼胝体薄和髓鞘形成延迟。核孔蛋白188 (NUP188) （MIM:615587）基因的双等位基因功能丧失变异与病因有关。病例介绍：我们的患者，近亲父母所生，表现为法洛四联症，双侧先天性白内障，脑积水，小舌裂，右侧盆腔肾，肝肿大，面部特征发现，并有类似的前兄弟姐妹病史。全外显子组序列分析在NUP188基因中发现了一个新的纯合变异NM_015354.2: c.124C>T/p.（Arg42Ter）。结论：本研究描述了一种新的NUP188基因致病变异的sandege - stefanova综合征患者。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文去求助

来源期刊

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.