Genetic Characterization of a Model Ciliopathy: Bardet-Biedl Syndrome.

IF 0.4 Q4 PEDIATRICS Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-03-31 DOI:10.1055/s-0040-1708844
Samantha A Kops, Ranjit I Kylat, Shanti Bhatia, Michael D Seckeler, Brent J Barber, Mohammad Y Bader
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引用次数: 1

Abstract

Bardet-Biedl syndrome (BBS) is a rare ciliopathy affecting multiple organ systems. Patients with BBS are usually diagnosed later in childhood when clinical features of the disease become apparent. In this article, we presented a case of BBS discovered by whole genome sequencing in a newborn with heterotaxy, duodenal atresia, and complex congenital heart disease. Early diagnosis is important not only for prognostication but also to explore ways to mitigate the cone-rod dysfunction and for exploring newer therapies. Our case highlights the importance of a high index of suspicion and the utility of advanced genetic testing to provide an early diagnosis for a rare disease.

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一种典型纤毛病的遗传特征:Bardet-Biedl综合征。
Bardet-Biedl综合征(BBS)是一种罕见的影响多器官系统的纤毛病。BBS患者通常在儿童期临床特征变得明显时才被诊断出来。在这篇文章中,我们报告了一个通过全基因组测序在异位、十二指肠闭锁和复杂先天性心脏病的新生儿中发现BBS的病例。早期诊断不仅对预后很重要,而且对探索减轻锥杆功能障碍的方法和探索新的治疗方法也很重要。我们的病例突出了高怀疑指数的重要性,以及先进的基因检测对罕见疾病提供早期诊断的效用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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期刊介绍: The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.
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