Neonatal Hydrocolpos in Bardet-Biedl Syndrome due to a Novel Frameshift Indel in the BBS10 Gene.

IF 2.4 4区医学 Q2 DEVELOPMENTAL BIOLOGY

Sexual Development Pub Date : 2024-09-09 DOI:10.1159/000541137

Maria Helena Palma Sircili, Rafael Loch Batista, Enoch Quindere de Sá Barreto, Solange Paiva Bueno, Anna Flávia Figueredo Benedetti, Flora Ladeira Craveiro, Raquel Matinez Ramos, Marcelo Praxedes Monteiro Filho, Sorahia Domenice, Berenice Bilharinho Mendonca, Francisco Tibor Dénes

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引用次数: 0

Abstract

Introduction: Hydrocolpos, a rare condition characterized by cystic dilatation of the vagina, can arise from various etiologies, including isolated imperforate hymen and vaginal atresia. Genetic conditions, such as Bardet-Biedl syndrome (BBS), may also manifest with hydrocolpos as part of urogenital malformations.

Methods: We present a case of neonatal hydrocolpos associated with BBS. Sequencing of 19 BBS genes was performed to elucidate the genetic basis of the syndrome.

Results: Genetic analysis revealed a novel frameshift indel variant (c.1543_1546dup p.Thr516Argfs*7) in the BBS10 gene. This finding expands the spectrum of BBS mutations and underscores the importance of genetic evaluation in patients with hydrocolpos, particularly when associated with additional clinical features suggestive of syndromic etiology.

Conclusion: Pediatric urologists should maintain a high index of suspicion for underlying genetic conditions, including BBS, in neonates presenting with hydrocolpos, given the potential for more severe associated complications such as renal and retinal diseases, obesity, and polydactyly.

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由于 BBS10 基因中的一个新的框移嵌合体而导致的 Bardet-Biedl 综合征新生儿水肿。

导言：阴道积液是一种以阴道囊性扩张为特征的罕见疾病，可由多种病因引起，包括孤立性处女膜无孔和阴道闭锁。遗传性疾病，如巴尔德-比德尔综合征（Bardet-Biedl Syndrome，BBS），也可能表现为泌尿生殖系统畸形中的阴道积水：方法：我们报告了一例与 BBS 相关的新生儿肾积水病例。我们对 19 个 BBS 基因进行了测序，以阐明该综合征的遗传基础：结果：基因分析发现 BBS10 基因中存在一个新的框移 indel 变异（c.1546_1547insGATA p.Thr516Argfs*7）。这一发现扩大了 BBS 基因突变的范围，并强调了对肾积水患者进行基因评估的重要性，尤其是当患者伴有提示综合病因的其他临床特征时：小儿泌尿科医生应高度怀疑新生儿肾积水的潜在遗传病，包括 BBS，因为肾积水可能导致更严重的相关并发症，如肾脏和视网膜疾病、肥胖和多指畸形。

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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来源期刊

Sexual Development 生物-发育生物学

CiteScore

4.00

自引率

4.30%

发文量

审稿时长

>12 weeks

期刊介绍： Recent discoveries in experimental and clinical research have led to impressive advances in our knowledge of the genetic and environmental mechanisms governing sex determination and differentiation, their evolution as well as the mutations or endocrine and metabolic abnormalities that interfere with normal gonadal development. ‘Sexual Development’ provides a unique forum for this rapidly expanding field. Its broad scope covers all aspects of genetics, molecular biology, embryology, endocrinology, evolution and pathology of sex determination and differentiation in humans and animals. It publishes high-quality original research manuscripts, review articles, short reports, case reports and commentaries. An internationally renowned and multidisciplinary editorial team of three chief editors, ten prominent scientists serving as section editors, and a distinguished panel of editorial board members ensures fast and author-friendly editorial processing and peer reviewing.