Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11

IF 6.6 1区 医学 Q1 GENETICS & HEREDITY Genetics in Medicine Pub Date : 2024-10-09 DOI:10.1016/j.gim.2024.101291
Paulo Ribeiro Nóbrega , Anderson Rodrigues Brandão Paiva , Antonio Duarte Amorim Junior , Pedro Lucas Grangeiro Sá Barreto Lima , Katiane Sayão Souza Cabral , Isabella Peixoto Barcelos , André Luis Santos Pessoa , Carlos Frederico Leite Souza-Lima , Matheus Augusto Araújo Castro , Fernando Freua , Emerson de Santana Santos , Margleice Marinho Vieira Rocha , Rayana Elias Maia , Rodrigo Santos Araújo , Juan David Guevara Ramos , Rosane Guazi Resende , Gerson da Silva Carvalho , Luciana Patrizia Andrade Valença , José Ronaldo Lima de Carvalho Jr. , Eduardo Sousa Melo , David S. Lynch
{"title":"Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11","authors":"Paulo Ribeiro Nóbrega ,&nbsp;Anderson Rodrigues Brandão Paiva ,&nbsp;Antonio Duarte Amorim Junior ,&nbsp;Pedro Lucas Grangeiro Sá Barreto Lima ,&nbsp;Katiane Sayão Souza Cabral ,&nbsp;Isabella Peixoto Barcelos ,&nbsp;André Luis Santos Pessoa ,&nbsp;Carlos Frederico Leite Souza-Lima ,&nbsp;Matheus Augusto Araújo Castro ,&nbsp;Fernando Freua ,&nbsp;Emerson de Santana Santos ,&nbsp;Margleice Marinho Vieira Rocha ,&nbsp;Rayana Elias Maia ,&nbsp;Rodrigo Santos Araújo ,&nbsp;Juan David Guevara Ramos ,&nbsp;Rosane Guazi Resende ,&nbsp;Gerson da Silva Carvalho ,&nbsp;Luciana Patrizia Andrade Valença ,&nbsp;José Ronaldo Lima de Carvalho Jr. ,&nbsp;Eduardo Sousa Melo ,&nbsp;David S. Lynch","doi":"10.1016/j.gim.2024.101291","DOIUrl":null,"url":null,"abstract":"<div><h3>Purpose</h3><div>Ceroid lipofuscinosis type 11 (CLN11) is a very rare disease, being reported in only 13 unrelated families so far. Further reports are necessary to comprehend the clinical phenotype of this condition. This article aims to report 9 additional cases of CLN11 from 9 unrelated Latin American families presenting with relatively slow disease progression.</div></div><div><h3>Methods</h3><div>This was a retrospective observational study including patients with CLN11. Patients were identified through an active search for granulin precursor gene (<em>GRN</em>) pathogenic variants across the entire database of next-generation sequencing of a commercial laboratory and by contacting attending physicians to check for clinical and radiologic findings compatible with a neuronal ceroid lipofuscinosis phenotype.</div></div><div><h3>Results</h3><div>Nine CLN11 patients from unrelated families were evaluated. Age of onset varied between 3 to 17 years. The most common findings were visual impairment, cerebellar ataxia, seizures, myoclonus, and cognitive decline. One patient had a previously unreported finding of cervical, perioral, and tongue myoclonus. Most of the patients were able to walk unassisted after an average of 14.2 years (SD 4.76 y) from disease onset.</div></div><div><h3>Conclusion</h3><div>We describe 9 new cases of a very rare type of neuronal ceroid lipofuscinosis (CLN11) from Latin America with a recurrent p.(Gln257ProfsTer27) and a novel p.(Cys83Ter) nonsense variant. Our findings suggest that a slowly progressive neuronal ceroid lipofuscinosis might be a clue for the diagnosis of CLN11.</div></div>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"27 1","pages":"Article 101291"},"PeriodicalIF":6.6000,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genetics in Medicine","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1098360024002259","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0

Abstract

Purpose

Ceroid lipofuscinosis type 11 (CLN11) is a very rare disease, being reported in only 13 unrelated families so far. Further reports are necessary to comprehend the clinical phenotype of this condition. This article aims to report 9 additional cases of CLN11 from 9 unrelated Latin American families presenting with relatively slow disease progression.

Methods

This was a retrospective observational study including patients with CLN11. Patients were identified through an active search for granulin precursor gene (GRN) pathogenic variants across the entire database of next-generation sequencing of a commercial laboratory and by contacting attending physicians to check for clinical and radiologic findings compatible with a neuronal ceroid lipofuscinosis phenotype.

Results

Nine CLN11 patients from unrelated families were evaluated. Age of onset varied between 3 to 17 years. The most common findings were visual impairment, cerebellar ataxia, seizures, myoclonus, and cognitive decline. One patient had a previously unreported finding of cervical, perioral, and tongue myoclonus. Most of the patients were able to walk unassisted after an average of 14.2 years (SD 4.76 y) from disease onset.

Conclusion

We describe 9 new cases of a very rare type of neuronal ceroid lipofuscinosis (CLN11) from Latin America with a recurrent p.(Gln257ProfsTer27) and a novel p.(Cys83Ter) nonsense variant. Our findings suggest that a slowly progressive neuronal ceroid lipofuscinosis might be a clue for the diagnosis of CLN11.
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
进一步描述神经细胞类脂膜脂质沉着病 11 型的表型谱。
目的:类色素脂褐质沉着病 11 型(CLN11)是一种非常罕见的疾病,迄今为止仅有 13 个无血缘关系的家族报告过这种疾病。要了解这种疾病的临床表型,还需要更多的报道。本文旨在报告另外九例 CLN11 病例,这些病例来自九个无血缘关系的拉美家庭,病情发展相对缓慢:这是一项包括 CLN11 患者在内的回顾性观察研究。通过在一家商业实验室的整个下一代测序(NGS)数据库中搜索GRN致病变体,并联系主治医生检查是否有与神经细胞类脂膜炎表型相符的临床和影像学结果,确定了患者:结果:评估了来自非亲属关系家庭的9名CLN11患者。发病年龄从 3 岁到 17 岁不等。最常见的症状是视力障碍、小脑共济失调、癫痫发作、肌阵挛和认知能力下降。有一名患者出现了颈部、口周和舌肌阵挛,这在以前从未报道过。大多数患者在发病后平均 14.2 年(标准差 4.76 年)就能独立行走:我们描述了九例来自拉丁美洲的神经细胞类脂质硬化症(CLN11)新病例,这些病例均患有复发性p.(Gln257ProfsTer27)和新型p.(Cys83Ter)无义变异。我们的研究结果表明,缓慢进展的 NCL 可能是诊断 CLN11 的线索。
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
Genetics in Medicine
Genetics in Medicine 医学-遗传学
CiteScore
15.20
自引率
6.80%
发文量
857
审稿时长
1.3 weeks
期刊介绍: Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics and Genomics. The journal''s mission is to enhance the knowledge, understanding, and practice of medical genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health. GIM encourages research that combats racism, includes diverse populations and is written by authors from diverse and underrepresented backgrounds.
期刊最新文献
Fetal fraction amplification within prenatal cfDNA screening enables detection of genome-wide copy-number variants at enhanced resolution. A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib. High yield of monogenic short stature in children from Kurdistan, Iraq: a genetic testing algorithm for consanguineous families. The "Genetic Test Request": A genomic stewardship intervention for inpatient exome and genome orders at a tertiary pediatric hospital. Payer Perspectives on Genomic Testing in the United States: A systematic literature review.
×
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
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 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 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1