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 (K ) channels, respectively. Multiple case reports of affected individuals have described the various clinical features...

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Vydáno v:American journal of medical genetics. Part C, Seminars in medical genetics Ročník 181; číslo 4; s. 658
Hlavní autoři: 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, van Haelst, Mieke M, Nichols, Colin G, van Haaften, Gijs
Médium: Journal Article
Jazyk:angličtina
Vydáno: United States 01.12.2019
Témata:
Adolescent
Adult
Cardiomegaly - epidemiology
Cardiomegaly - genetics
Child
Facies
Female
Humans
Hypertrichosis - epidemiology
Hypertrichosis - genetics
Male
Osteochondrodysplasias - epidemiology
Osteochondrodysplasias - genetics
Phenotype
Registries
Young Adult
polyhydramnios
hypertrichosis
ABCC9
Cantú
PDA
cardiomegaly
ISSN:1552-4876, 1552-4876
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Popis
Shrnutí: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 (K ) 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.
Bibliografie:ObjectType-Article-1
SourceType-Scholarly Journals-1
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ISSN:1552-4876
1552-4876
DOI:10.1002/ajmg.c.31753