{"title":"Clinical features of a novel compound heterozygous genotype of the <i>BBS2</i> gene: a case report.","authors":"Mojiang Li, Yingshu Li, Ting Wen, Haiyan Zhou, Wanqin Xie","doi":"10.1177/03000605241274239","DOIUrl":null,"url":null,"abstract":"<p><p>Bardet-Biedl syndrome is a rare autosomal recessive genetic disorder with heterogenous clinical manifestations. The present study reports the clinical features of a novel compound heterozygous genotype of the <i>BBS2</i> gene in a 14-year-old girl and her 6-year-old sister who had complaints of early-onset low vision. Fundus images revealed retinitis pigmentosa-like changes, and full-field electroretinograms showed no amplitude for the rod or cone response in both patients. Interestingly, nystagmus was observed in the older sister. On physical examination, the sisters had moderate obesity without polydactyly, hypogonadism, or intellectual disability. Exome sequencing revealed a novel compound heterozygous genotype of <i>BBS2</i> in the sisters, namely the paternally inherited NM_031885.5:c.534 + 1G > T variant and the maternally inherited NM_031885.5:c.700C > T (p.Arg234Ter) variant. Both variants were classified as pathogenic according to the American College of Medical Genetics and Genomics guidelines. This study provides useful information on the genotype-phenotype relationships of the <i>BBS2</i> gene for genetic counseling and diagnosis.</p>","PeriodicalId":16129,"journal":{"name":"Journal of International Medical Research","volume":null,"pages":null},"PeriodicalIF":1.4000,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11344895/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of International Medical Research","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/03000605241274239","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"MEDICINE, RESEARCH & EXPERIMENTAL","Score":null,"Total":0}
引用次数: 0
Abstract
Bardet-Biedl syndrome is a rare autosomal recessive genetic disorder with heterogenous clinical manifestations. The present study reports the clinical features of a novel compound heterozygous genotype of the BBS2 gene in a 14-year-old girl and her 6-year-old sister who had complaints of early-onset low vision. Fundus images revealed retinitis pigmentosa-like changes, and full-field electroretinograms showed no amplitude for the rod or cone response in both patients. Interestingly, nystagmus was observed in the older sister. On physical examination, the sisters had moderate obesity without polydactyly, hypogonadism, or intellectual disability. Exome sequencing revealed a novel compound heterozygous genotype of BBS2 in the sisters, namely the paternally inherited NM_031885.5:c.534 + 1G > T variant and the maternally inherited NM_031885.5:c.700C > T (p.Arg234Ter) variant. Both variants were classified as pathogenic according to the American College of Medical Genetics and Genomics guidelines. This study provides useful information on the genotype-phenotype relationships of the BBS2 gene for genetic counseling and diagnosis.
巴尔德-比德尔综合征(Bardet-Biedl Syndrome)是一种罕见的常染色体隐性遗传疾病,具有不同的临床表现。本研究报告了一名 14 岁女孩及其 6 岁妹妹的 BBS2 基因新型复合杂合基因型的临床特征。眼底图像显示出视网膜色素变性样改变,全视野视网膜电图显示这两名患者的视杆细胞或视锥细胞均无振幅反应。有趣的是,姐姐出现了眼球震颤。经体格检查,姐妹俩均为中度肥胖,但没有多指畸形、性腺功能低下或智力障碍。外显子组测序发现,姐妹俩的 BBS2 存在一种新型复合杂合基因型,即父方遗传的 NM_031885.5:c.534 + 1G > T 变异和母方遗传的 NM_031885.5:c.700C > T (p.Arg234Ter) 变异。根据美国医学遗传学和基因组学学院(American College of Medical Genetics and Genomics)的指南,这两个变异均被归类为致病性变异。这项研究为遗传咨询和诊断提供了有关 BBS2 基因基因型与表型关系的有用信息。
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