J Genet Med.  2016 Dec;13(2):99-104. 10.5734/JGM.2016.13.2.99.

Three Korean patients with Cantú syndrome caused by mutations in ABCC9 and their clinical manifestations

  • 1Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea. jmko@snu.ac.kr
  • 2Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea.


Cantú syndrome (CS, OMIM 239850) is a very rare autosomal dominantly inherited genetic disease characterized by congenital hypertrichosis, neonatal macrosomia, a distinct facial features such as macrocephaly, and cardiac defects. Since the first description by Cantú et al. in 1982, about 50 cases have been reported to date. Recently, two causative genes for CS has been found by using exome sequencing analyses: ABCC9 and KCNJ8 . Most cases of clinically diagnosed CS have resulted from de novo mutations in ABCC9. In this study, we report three independent Korean children with CS resulting from de novo ABCC9 mutations. Our patients had common clinical findings such as congenital hypertrichosis, distinctive facial features. One of them showed severe pulmonary hypertension and hypertrophic cardiomyopathy, which require medical treatment. And, two patients had a history of patent ductus arteriosus. Although two of our patients had shown early motor developmental delay, it was gradually improved during follow-up periods. Although CS is quite rare, there are the concerns about development of various cardiac problems in the lifetime. Therefore, an accurate diagnosis followed by appropriate management and genetic counseling should be provided to CS patients.


Cantú syndrome; Hypertrichosis; Macrocephaly; Hypertrophic cardiomyopathy; ABCC9
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