Zhengda Sun, Qijun Song, Ziyue Zhang, Shaoling Liu, Ruihua Yu, Yao Chen, Haiyan Liu, Lijun Wang
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引用次数: 0
Abstract
Objective: To report the clinical manifestations, treatment, and genetic diagnosis of a patient with osteo-oto-hepato-enteric (O2HE) syndrome.
Case presentation: A retrospective analysis was performed on a Chinese premature infant born at 36 + 5 weeks of gestation. The analysis included maternal pregnancy and delivery history, prenatal ultrasound findings, clinical manifestations, diagnosis and treatment process, and UNC45A gene mutation results for the infant and parents. A literature review was also conducted. The mother had a history of six spontaneous abortions. A late-pregnancy prenatal ultrasound revealed polyhydramnios and diffuse intestinal dilation. The infant developed watery stools and diarrhea shortly after birth and was clinically suspected to have congenital chloride diarrhea. Supportive treatment was administered, and whole-exome sequencing was performed for the family. Two heterozygous mutations were identified in the UNC45A gene, including c.2455C > T (p.Arg819Ter), a novel, previously unreported variant. The infant was ultimately diagnosed with osteo-oto-hepatoenteric syndrome.
Conclusion: Genetic analysis of the UNC45A gene is valuable for diagnosing O2HE syndrome. The novel mutation c.2455C > T (p.Arg819Ter) enriches the mutation spectrum of UNC45A, providing further theoretical support for diagnosis and genetic counseling of O2HE.
期刊介绍：
Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care.
Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.
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