Identifying the Fourth Patient With Spastic Paraplegia 90, Extending the Phenotype Spectrum.

IF 2.3 3区 医学 Q2 GENETICS & HEREDITY
Tarik Duzenli, Vusala Yusufova, Huriye Cetin, Esra Serdaroglu, Bahar Buyukkaragoz, Gulsum Kayhan
{"title":"Identifying the Fourth Patient With Spastic Paraplegia 90, Extending the Phenotype Spectrum.","authors":"Tarik Duzenli, Vusala Yusufova, Huriye Cetin, Esra Serdaroglu, Bahar Buyukkaragoz, Gulsum Kayhan","doi":"10.1111/cge.70009","DOIUrl":null,"url":null,"abstract":"<p><p>Spastic paraplegia 90 (SPG90; OMIM #620416, 620417) is a rare neurologic disease caused by monoallelic or biallelic variants in the serine palmitoyltransferase small subunit A (SPTSSA) gene. This syndrome is characterized by neurodevelopmental delay, sensorineural hearing loss, progressive motor impairment, and lower extremity spasticity. To date, only three patients have been reported. In this report, we present a 10-year-old female patient with global developmental delay, inability to walk, axial hypotonia, extremity spasticity, dystonia, distal renal tubular acidosis, recurrent urinary tract infections, nephrolithiasis, neurogenic bladder, and primary polydipsia. Exome sequencing revealed a heterozygous pathogenic variant (p.Thr51Ile), which was detected in two of the reported patients, suggesting a recurrent variant in this syndrome. The neurogenic bladder and primary polydipsia found in our patient are novel findings, and we propose that genitourinary problems may be a component of the syndrome.</p>","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":" ","pages":""},"PeriodicalIF":2.3000,"publicationDate":"2025-06-18","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.70009","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

Abstract

Spastic paraplegia 90 (SPG90; OMIM #620416, 620417) is a rare neurologic disease caused by monoallelic or biallelic variants in the serine palmitoyltransferase small subunit A (SPTSSA) gene. This syndrome is characterized by neurodevelopmental delay, sensorineural hearing loss, progressive motor impairment, and lower extremity spasticity. To date, only three patients have been reported. In this report, we present a 10-year-old female patient with global developmental delay, inability to walk, axial hypotonia, extremity spasticity, dystonia, distal renal tubular acidosis, recurrent urinary tract infections, nephrolithiasis, neurogenic bladder, and primary polydipsia. Exome sequencing revealed a heterozygous pathogenic variant (p.Thr51Ile), which was detected in two of the reported patients, suggesting a recurrent variant in this syndrome. The neurogenic bladder and primary polydipsia found in our patient are novel findings, and we propose that genitourinary problems may be a component of the syndrome.

确认第4例痉挛性截瘫90,延长表型谱。
痉挛性截瘫90;OMIM #620416, 620417)是一种罕见的神经系统疾病,由丝氨酸棕榈酰转移酶小亚基a (SPTSSA)基因的单等位基因或双等位基因变异引起。该综合征以神经发育迟缓、感音神经性听力丧失、进行性运动障碍和下肢痉挛为特征。迄今为止,仅报告了3例患者。在此报告中,我们报告了一名10岁的女性患者,患有整体发育迟缓,无法行走,轴向张力低下,四肢痉挛,肌张力障碍,远端肾小管酸中毒,复发性尿路感染,肾结石,神经源性膀胱和原发性多饮。外显子组测序显示,在两例报告的患者中检测到一种杂合致病性变异(p.s thr51ile),表明该综合征存在复发性变异。在我们的患者中发现的神经源性膀胱和原发性多饮是新发现,我们认为泌尿生殖系统问题可能是该综合征的一个组成部分。
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 求助全文
来源期刊
Clinical Genetics
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
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信