Abstract:
Background Galloway–Mowat syndrome is a rare autosomal recessive neurodegenerative disease. It is reported that it mostly occurs in families where parents are consanguineous, but there are few reports in China.
Objective To understand the genetic features of Galloway-Mowat syndrome by analyzing the genetic characteristics of a child associated with homozygous mutation of WDR73 caused by consanguineous marriage and his pedigree.
Methods Clinical data about a child with Galloway-Mowat syndrome and his family admitted to the Department of Pediatrics of the First Medical Center of Chinese PLA General Hospital in October 2021 were collected. The whole exon gene was detected in the peripheral blood of the patient and his parents, and part of the family members were verified by one generation sequencing.
Results At the age of 3 months, the infant presented poor chasing and psychomotor development. Visual evoked potentials suggested severe obstruction of the optic nerve conduction in both eyes, head MRI showed a thin corpus callosum, blunt anterior horn of the lateral ventricle and delayed myelination. A homozygous frameshift mutation was found in WDR73 gene c.972_973dup (p.F325Sfs*10). The diagnosis of Galloway-Mowat syndrome was confirmed. The parents of the boy were consanguineous and they were carriers of the gene mutation site.
Conclusion In this study, we have extended the gene spectrum of Galloway-Mowat syndrome, and the WDR73 gene frameshift mutation is a pathogenic mutation. Consanguineous marriage will increase the incidence of recessive genetic diseases.
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