| Summary: | Cantu syndrome is a hyperhairy osteochondroplasia syndrome caused by abnormal function of ATP-dependent potassium ion channel, involving multiple systems, mainly manifested as hyperhairy body, skeletal muscle abnormalities and heart disease, etc. In this article, clinical data and gene sequencing results of a 10-month-old boy with Cantu syndrome were reported. He mainly presented with special facial features, and with congenital heart disease and recurrent respiratory tract infections. The results of whole exon gene sequencing showed that the child had missense mutation in exon 9 of ABCC9 gene, c.1138G > A (p.Gly380Ser). This mutation has not been previously reported. Genetic testing is helpful to early diagnosis of Cantu syndrome and guide the eugenics.
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