A Case Report and Literature Review on Osteo-Oto-Hepato-Enteric Syndrome in Premature Infants Caused by UNC45A Deficiency.

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.