Galloway-Mowat Syndrome in an infant caused by OSGEP gene mutation: a case report and literature review / 中国新生儿科杂志

ABSTRACT

Objective:To summarize the clinical features and pathogenic gene mutation of Galloway-Mowat syndrome (GAMOS).Methods:We retrospectively collected the medical history, physical signs, laboratory findings, imaging, and molecular data of GAMOS in an infant diagnosed at the department of Pediatrics of Women and Children's Hospital, School of Medicine, Xiamen university. Relevant literature up to December 2021, retrieved from PubMed, Embase, Web of Science, the Cochrane Library, China National Knowledge Infrastructure, VIP, Wanfang and the Chinese Medical Journal Full Text database with the terms of "Galloway-Mowat syndrome", "infant", "WDR73", "LAGE3", "OSGEP", "TP53RK" and "TPRKB".Results:The male infant with dysmorphic facial features and microcephaly at birth gradually displayed growth restriction and developmental delay. He was admitted to hospital at 3 months and 1 day due to "tachypnea for a half day", and suffered from severe pneumonia, urinary tract infection, nephrotic syndrome, repetitive convulsion, septic shock, disseminated intravascular coagulation, acute renal damage and multiple organ failure during hospitalization. He died when his family had given up treatment. Whole exome sequencing revealed a homozygous mutation c.740G>A (p.Arg247Gln) in the OSGEP gene and both of his parents were heterozygous variation carriers. In the total 14 publications (13 were in English and only 1 in Chinese) that were retrieved, with 78 patients from 58 pedigrees. Together with the index case, there were 79 patients in total. The main clinical manifestations were craniofacial and skeletal dysmorphism, as well as nervous system, renal and eye impairment. Obstetric problems were detected in 15 cases (19.0%), including intrauterine growth restriction, microcephaly, oligohydramnios and fetal distress in utero. 49 cases (62.0%) died when reported. The genetic cause of GAMOS had been reported in 79 patients OSGEP in 36 (45.6%), WDR73 in 29 (36.7%), TP53RK in 7(8.9%), LAGE3 in 5 (6.3%), and TPRKB in 2(2.5%).Conclusions:The main clinical manifestations of GAMOS were craniofacial and skeletal dysmorphism, development delay, leukoencephalopathy, myelination defect, proteinuria and nephrotic syndrome, and associated with poor prognosis. Prenatal findings may be useful for an early diagnosis.