Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

Cantú syndrome (CS), first described in 1982, is caused by pathogenic variants in ABCC9 and KCNJ8, which encode the regulatory and pore forming subunits of ATP‐sensitive potassium (KATP) channels, respectively. Multiple case reports of affected individuals have described the various clinical feature...

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Published inAmerican journal of medical genetics. Part C, Seminars in medical genetics Vol. 181; no. 4; pp. 658 - 681
Main Authors Grange, Dorothy K., Roessler, Helen I., McClenaghan, Conor, Duran, Karen, Shields, Kathleen, Remedi, Maria S., Knoers, Nine V. A. M., Lee, Jin‐Moo, Kirk, Edwin P., Scurr, Ingrid, Smithson, Sarah F., Singh, Gautam K., Haelst, Mieke M., Nichols, Colin G., Haaften, Gijs
Format Journal Article
LanguageEnglish
Published Hoboken, USA John Wiley & Sons, Inc 01.12.2019
Wiley Subscription Services, Inc
Subjects
ABCC9
Adolescent
Adult
Aorta
Arteries
Cantu syndrome
Cantú
cardiomegaly
Cardiomegaly - epidemiology
Cardiomegaly - genetics
Case reports
Child
Edema
Facies
Female
Fetuses
Genetic diversity
Genetic variance
Genetics
Genotypes
Headache
Humans
Hypertrichosis
Hypertrichosis - epidemiology
Hypertrichosis - genetics
Male
Migraine
Osteochondrodysplasias - epidemiology
Osteochondrodysplasias - genetics
PDA
Phenotype
Phenotypes
polyhydramnios
Pore formation
Potassium channels
Registries
Tortuosity
Young Adult
polyhydramnios
hypertrichosis
ABCC9
Cantú
PDA
cardiomegaly
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Summary:Cantú syndrome (CS), first described in 1982, is caused by pathogenic variants in ABCC9 and KCNJ8, which encode the regulatory and pore forming subunits of ATP‐sensitive potassium (KATP) channels, respectively. Multiple case reports of affected individuals have described the various clinical features of CS, but systematic studies are lacking. To define the effects of genetic variants on CS phenotypes and clinical outcomes, we have developed a standardized REDCap‐based registry for CS. We report phenotypic features and associated genotypes on 74 CS subjects, with confirmed ABCC9 variants in 72 of the individuals. Hypertrichosis and a characteristic facial appearance are present in all individuals. Polyhydramnios during fetal life, hyperflexibility, edema, patent ductus arteriosus (PDA), cardiomegaly, dilated aortic root, vascular tortuosity of cerebral arteries, and migraine headaches are common features, although even with this large group of subjects, there is incomplete penetrance of CS‐associated features, without clear correlation to genotype.
Bibliography:Funding information
American Heart Association, Grant/Award Number: 19POST34380407; Children's Discovery Institute, Grant/Award Number: CH‐MD‐II‐2015‐488; CIMED Pilot and Feasibility Program, Grant/Award Numbers: CIMED‐14‐03, CIMED‐17‐01; E‐Rare Joint Transnational Cantu Treat Program, Grant/Award Number: I‐2101‐B26; National Institutes of Health, Grant/Award Number: HL140024
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AUTHOR CONTRIBUTIONS
Clinical assessments were carried out by D.K.G., J.M.L., E.P.K., I.S., S.F.S., G.K.S., M.M.H. Genetic analyses were carried out by H.I.R., K.D., Gv.H. Research clinic activities were coordinated by D.K.G., H.I.R, C.Mc.C, K.S., M.S.R., N.V.A.M.K., J.M.L, G.K.S., M.M.H., C.G.N. and Gv.H. The registry was developed by D.K.G. and K.S., and data were maintained and analyzed by D.K.G., H.I.R., C.Mc.C., K.S., M.S.R., C.G.N. The article was written by D.K.G., H.I.R., C.Mc.C., C.G.N., and edited by other authors.
ISSN:1552-4868
1552-4876
1552-4876
DOI:10.1002/ajmg.c.31753