A Rare Case of Bardet-Biedl Syndrome Caused by a Heterozygous Point Variant in BBS7 and a CNV Involved BBS7.

IF 0.9 4区 医学 Q4 GENETICS & HEREDITY
Xingkun Yang, Xiaoqiang Zhou, Cheng Zhou, Chao Li, Shuijuan Wu, Yasi Zhou, Jiayue Du, Xiaoling Guo, Xiang Huang
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引用次数: 0

Abstract

Introduction: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder classified as a multisystem nonmotile ciliopathy, primarily characterized by retinal cone-rod dystrophy, central obesity, postaxial polydactyly, cognitive impairment, kidney disease, and abnormalities of hypogonadism and genitourinary.

Case presentation: A fetus presenting with enlarged kidneys and enhanced echogenicity was identified during a prenatal screening at 17 weeks of gestation. Genetic analysis of the fetus was performed using chromosomal microarray analysis (CMA) and clinical exome sequencing (CES). The prenatal assessment yielded notable results in the fetus, with CMA and CES analysis detecting a compound heterozygous variant in the BBS7 gene and a substantial deletion in the chromosomal region 4q26q27. Subsequent autopsy findings corroborate the presence of postaxial polydactyly, bilateral renal enlargement, and an accessory auricle in the fetus.

Conclusions: Our study expands the range of phenotypes associated with BBS to include bilateral accessory auricle, as well as broadens the spectrum of variants linked to BBS. Our findings support the significant contribution of copy number variants to BBS, offering clinicians valuable insights for diagnosing the condition, particularly in prenatal settings.

由BBS7杂合点变异和涉及BBS7的CNV引起的罕见Bardet-Biedl综合征病例
简介:Bardet-Biedl综合征(BBS)是一种罕见的常染色体隐性遗传病,被归为多系统非运动性纤毛病,主要表现为视网膜锥杆营养不良、中枢性肥胖、轴后多指畸形、认知障碍、肾脏疾病以及性腺功能减退和泌尿生殖系统异常。病例介绍:胎儿在妊娠17周的产前筛查中发现肾脏增大和回声增强。采用染色体微阵列分析(CMA)和临床外显子组测序(CES)对胎儿进行遗传分析。产前评估在胎儿中取得了显著的结果,CMA和CES分析检测到BBS7基因的复合杂合变异和染色体区域4q26q27的大量缺失。随后的尸检结果证实胎儿存在轴后多指畸形、双侧肾脏增大和副耳廓。结论:我们的研究扩大了与BBS相关的表型范围,包括双侧副耳廓,并拓宽了与BBS相关的变异谱。我们的研究结果支持拷贝数变异对BBS的重要贡献,为临床医生提供了诊断疾病的宝贵见解,特别是在产前设置。
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来源期刊
Molecular Syndromology
Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
1.70
自引率
9.10%
发文量
67
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.
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