[Analysis of a child with Osteo-oto-hepato-enteric syndrome and a literature review].

Q4 Medicine

中华医学遗传学杂志 Pub Date : 2026-03-10 DOI:10.3760/cma.j.cn511374-20250912-00542

Dandan Wang, Qianqian Li, Hongxiang Guo, Yongning Chen, Qingfei Hao, Yanlei Xu, Xiuyong Cheng

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引用次数: 0

Abstract

Objective: To analyze the phenotype and genotype of a neonate with Osteo-oto-hepato-enteric syndrome (O2HE) and review the literature.

Methods: A female neonate diagnosed with O2HE syndrome on December 13, 2024 at the First Affiliated Hospital of Zhengzhou University was selected as the study subject, and her clinical characteristics were analyzed, and pathogenic variants were explored by whole exome sequencing (WES). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2025-KY-1038).

Results: The proband, a female infant, was delivered by Cesarean section at 36⁺¹ weeks of gestation. Five days after birth, she had developed severe diarrhea, mild cholestasis, sensorineural hearing loss, and growth retardation. WES revealed that she has harbored novel compound heterozygous variants c.512delA (p.Lys171Serfs*64) and c.698C>A (p.Thr233Asn) of the UNC45A gene, which were inherited from her mother and father, respectively. A total of 8 English papers were retrieved, which involved 16 patients from 14 families. Combined with our case, the 17 patients included 13 (76.5%) females and 4 (23.5%) males. Four patients (23.5%) had consanguineous parents. One case was excluded from further genetic analysis due to co-morbidity with other genetic variants. The primary clinical features included diarrhea (87.5%), cholestasis (81.3%), sensorineural hearing loss (31.3%), bone fragility (37.5%), and developmental delay (50.0%). Bi-allelic compound heterozygous mutations were identified in 12 patients (75.0%), and homozygous variants in 4 (25.0%). These included missense, nonsense, frameshift and deletional variants. The c.710T>C (p.Leu237Pro) variant was identified for 5 times, 3 of which were in homozygote forms.

Conclusion: O2HE syndrome should be suspected in cases with diarrhea, cholestasis, and hearing abnormalities during early postnatal period. Genetic testing facilitate early identification, genetic diagnosis and treatment.

查看原文本刊更多论文

[儿童骨-耳-肝-肠综合征1例分析及文献复习]。

目的：分析新生儿骨-耳-肝-肠综合征（O2HE）的表型和基因型，并复习相关文献。方法：选取郑州大学第一附属医院于2024年12月13日确诊为O2HE综合征的1例女性新生儿为研究对象，分析其临床特征，并采用全外显子组测序（WES）对其致病变异进行分析。本研究已获本院医学伦理委员会批准(伦理号：: 2025 - ky - 1038)。结果：先证者为一名女婴，于妊娠36+1周剖宫产。出生5天后，她出现严重腹泻、轻度胆汁淤积、感音神经性听力丧失和生长迟缓。WES结果显示，该患者的UNC45A基因中存在新的复合杂合变异体c.512delA （p.Lys171Serfs*64）和c.698C>A (p.Thr233Asn)，分别遗传自母亲和父亲。共检索到8篇英文论文，涉及14个家庭的16例患者。合并我们的病例，17例患者中女性13例（76.5%），男性4例（23.5%）。4例（23.5%）有近亲父母。1例因与其他遗传变异合并症而被排除在进一步的遗传分析之外。主要临床特征包括腹泻（87.5%）、胆汁淤积（81.3%）、感音神经性听力损失（31.3%）、骨质疏松（37.5%）和发育迟缓（50.0%）。双等位基因复合杂合突变12例（75.0%），纯合突变4例（25.0%）。这些包括错义、无意义、移码和删除变体。C . 710t >C （p.Leu237Pro）变异被鉴定了5次，其中3次为纯合子形式。结论：产后早期出现腹泻、胆汁淤积、听力异常等应怀疑O2HE综合征。基因检测有助于早期识别、基因诊断和治疗。

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

中华医学遗传学杂志 Medicine-Medicine (all)

CiteScore

0.50

自引率

0.00%

发文量

9521

期刊介绍： Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry. Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.