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

Dorothy K. Grange; Helen I. Roessler; Conor McClenaghan; Karen Duran; Kathleen Shields; Maria S. Remedi; Nine V.A.M. Knoers; Jin Moo Lee; Edwin P. Kirk; Ingrid Scurr; Sarah F. Smithson; Gautam K. Singh; Mieke M. van Haelst; Colin G. Nichols; Gijs van Haaften

doi:10.1002/ajmg.c.31753

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

Dorothy K. Grange^*, Helen I. Roessler, Conor McClenaghan, Karen Duran, Kathleen Shields, Maria S. Remedi, Nine V.A.M. Knoers, Jin Moo Lee, Edwin P. Kirk, Ingrid Scurr, Sarah F. Smithson, Gautam K. Singh, Mieke M. van Haelst, Colin G. Nichols, Gijs van Haaften

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

54 Citations (Scopus)

120 Downloads (Pure)

Abstract

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_ATP) 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.

Original language	English
Pages (from-to)	658-681
Number of pages	24
Journal	American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Volume	181
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.c.31753
Publication status	Published - 11-Dec-2019

Keywords

ABCC9
Cantú
cardiomegaly
hypertrichosis
PDA
polyhydramnios

Access to Document

10.1002/ajmg.c.31753

Cantú syndrome: Findings from 74 patients in theInternational Cantú Syndrome RegistryFinal publisher's version, 29.5 MBLicence: Taverne

Handle.net

Persistent link

Cite this

Grange, D. K., Roessler, H. I., McClenaghan, C., Duran, K., Shields, K., Remedi, M. S., Knoers, N. V. A. M., Lee, J. M., Kirk, E. P., Scurr, I., Smithson, S. F., Singh, G. K., van Haelst, M. M., Nichols, C. G., & van Haaften, G. (2019). Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 181(4), 658-681. https://doi.org/10.1002/ajmg.c.31753

@article{d8b9e31fc4b2456ab80c13ae848bdd57,

title = "Cant{\'u} syndrome: Findings from 74 patients in the International Cant{\'u} Syndrome Registry",

abstract = "Cant{\'u} 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.",

keywords = "ABCC9, Cant{\'u}, cardiomegaly, hypertrichosis, PDA, polyhydramnios",

author = "Grange, {Dorothy K.} and Roessler, {Helen I.} and Conor McClenaghan and Karen Duran and Kathleen Shields and Remedi, {Maria S.} and Knoers, {Nine V.A.M.} and Lee, {Jin Moo} and Kirk, {Edwin P.} and Ingrid Scurr and Smithson, {Sarah F.} and Singh, {Gautam K.} and {van Haelst}, {Mieke M.} and Nichols, {Colin G.} and {van Haaften}, Gijs",

note = "Publisher Copyright: {\textcopyright} 2019 Wiley Periodicals, Inc.",

year = "2019",

month = dec,

day = "11",

doi = "10.1002/ajmg.c.31753",

language = "English",

volume = "181",

pages = "658--681",

journal = "American Journal of Medical Genetics, Part C: Seminars in Medical Genetics",

issn = "1552-4868",

publisher = "Wiley",

number = "4",

}

Grange, DK, Roessler, HI, McClenaghan, C, Duran, K, Shields, K, Remedi, MS, Knoers, NVAM, Lee, JM, Kirk, EP, Scurr, I, Smithson, SF, Singh, GK, van Haelst, MM, Nichols, CG & van Haaften, G 2019, 'Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry', American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, vol. 181, no. 4, pp. 658-681. https://doi.org/10.1002/ajmg.c.31753

TY - JOUR

T1 - Cantú syndrome

T2 - Findings from 74 patients in the International Cantú Syndrome Registry

AU - Grange, Dorothy K.

AU - Roessler, Helen I.

AU - McClenaghan, Conor

AU - Duran, Karen

AU - Shields, Kathleen

AU - Remedi, Maria S.

AU - Knoers, Nine V.A.M.

AU - Lee, Jin Moo

AU - Kirk, Edwin P.

AU - Scurr, Ingrid

AU - Smithson, Sarah F.

AU - Singh, Gautam K.

AU - van Haelst, Mieke M.

AU - Nichols, Colin G.

AU - van Haaften, Gijs

PY - 2019/12/11

Y1 - 2019/12/11

N2 - 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.

AB - 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.

KW - ABCC9

KW - Cantú

KW - cardiomegaly

KW - hypertrichosis

KW - PDA

KW - polyhydramnios

UR - http://www.scopus.com/inward/record.url?scp=85076324181&partnerID=8YFLogxK

U2 - 10.1002/ajmg.c.31753

DO - 10.1002/ajmg.c.31753

M3 - Article

C2 - 31828977

AN - SCOPUS:85076324181

SN - 1552-4868

VL - 181

SP - 658

EP - 681

JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

IS - 4

ER -

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

Abstract

Keywords

Access to Document

Handle.net

Other files and links

Fingerprint

Cite this