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Cantu syndrome: Findings from 74 patients in the International Cantu Syndrome Registry.
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. Grange DK, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):658-681. doi: 10.1002/ajmg.c.31753. Am J Med Genet C Semin Med Genet. 2019. PMID: 31828977 Free PMC article.
Cantu 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. ...
Cantu syndrome (CS), first described in 1982, is caused by pathogenic variants in ABCC9 and KCNJ8, which encode the regulatory
Cantu syndrome and hypopituitarism: implications for endocrine monitoring.
Theis NJ, Calvert T, McIntyre P, Robertson SP, Wheeler BJ. Theis NJ, et al. Endocrinol Diabetes Metab Case Rep. 2019 Nov 12;2019:19-0103. doi: 10.1530/EDM-19-0103. Online ahead of print. Endocrinol Diabetes Metab Case Rep. 2019. PMID: 31743099 Free PMC article.
SUMMARY: Cantu syndrome, or hypertrichotic osteochondrodysplasia, is a rare, autosomal dominant genetically heterogeneous disorder. ...This adds to other reports of pituitary abnormalities in this condition and supports inclusion of endocrine monitoring in the clini …
SUMMARY: Cantu syndrome, or hypertrichotic osteochondrodysplasia, is a rare, autosomal dominant genetically heterogeneous diso …
Cantu Syndrome.
Grange DK, Nichols CG, Singh GK. Grange DK, et al. 2014 Oct 2 [updated 2020 Oct 1]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. GeneReviews®. 1993–2020. PMID: 25275207 Free Books & Documents. Review.
Some individuals with a clinical diagnosis of Cantu syndrome have not had a pathogenic variant identified in either gene, suggesting the existence of another as-yet unidentified causative gene. ...Family members who are affected should be evaluated and monitored for …
Some individuals with a clinical diagnosis of Cantu syndrome have not had a pathogenic variant identified in either gene, sugg …
Cantu Syndrome Associated with Ovarian Agenesis.
Fryssira H, Psoni S, Amenta S, Tsoutsou E, Sofocleous C, Manolakos E, Gavra M, Lüdecke HJ, Czeschik JC. Fryssira H, et al. Mol Syndromol. 2017 Jun;8(4):206-210. doi: 10.1159/000471247. Epub 2017 May 10. Mol Syndromol. 2017. PMID: 28690487 Free PMC article.
Cantu syndrome is a very rare autosomal dominant disorder characterized by generalized congenital hypertrichosis, neonatal macrosomia, coarse face, cardiomegaly, and occasionally, skeletal abnormalities. ...This missense gain-of-function mutation was located in exon
Cantu syndrome is a very rare autosomal dominant disorder characterized by generalized congenital hypertrichosis, neonatal mac
Cantu syndrome with coexisting familial pituitary adenoma.
Marques P, Spencer R, Morrison PJ, Carr IM, Dang MN, Bonthron DT, Hunter S, Korbonits M. Marques P, et al. Endocrine. 2018 Mar;59(3):677-684. doi: 10.1007/s12020-017-1497-9. Epub 2018 Jan 11. Endocrine. 2018. PMID: 29327300 Free PMC article.
Acromegaloid facies, together with hypertrichosis, are typical manifestations of Cantu syndrome. CASE DESCRIPTION: We present a three-generation family with 5 affected members, with marked acromegaloid facies and prominent hypertrichosis, due to a novel missense var …
Acromegaloid facies, together with hypertrichosis, are typical manifestations of Cantu syndrome. CASE DESCRIPTION: We present …
Cardiovascular consequences of KATP overactivity in Cantu syndrome.
Huang Y, McClenaghan C, Harter TM, Hinman K, Halabi CM, Matkovich SJ, Zhang H, Brown GS, Mecham RP, England SK, Kovacs A, Remedi MS, Nichols CG. Huang Y, et al. JCI Insight. 2018 Aug 9;3(15):e121153. doi: 10.1172/jci.insight.121153. eCollection 2018 Aug 9. JCI Insight. 2018. PMID: 30089727 Free PMC article.
Cantu syndrome (CS) is characterized by multiple vascular and cardiac abnormalities including vascular dilation and tortuosity, systemic hypotension, and cardiomegaly. ...
Cantu syndrome (CS) is characterized by multiple vascular and cardiac abnormalities including vascular dilation and tortuosity
Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in K(ATP) channel gain-of-function by differential mechanisms.
McClenaghan C, Hanson A, Sala-Rabanal M, Roessler HI, Josifova D, Grange DK, van Haaften G, Nichols CG. McClenaghan C, et al. J Biol Chem. 2018 Feb 9;293(6):2041-2052. doi: 10.1074/jbc.RA117.000351. Epub 2017 Dec 22. J Biol Chem. 2018. PMID: 29275331 Free PMC article.
The complex disorder Cantu syndrome (CS) arises from gain-of-function mutations in either KCNJ8 or ABCC9, the genes encoding the Kir6.1 and SUR2 subunits of ATP-sensitive potassium (K(ATP)) channels, respectively. ...
The complex disorder Cantu syndrome (CS) arises from gain-of-function mutations in either KCNJ8 or ABCC9, the genes encoding t …
Cantu syndrome.
Herman TE, McAlister WH. Herman TE, et al. Pediatr Radiol. 2005 May;35(5):550-1. doi: 10.1007/s00247-004-1386-2. Epub 2005 Feb 27. Pediatr Radiol. 2005. PMID: 15735970 No abstract available.
Clinical utility gene card for: Cantu syndrome.
Kirk EP, Scurr I, van Haaften G, van Haelst MM, Nichols CG, Williams M, Smithson SF, Grange DK. Kirk EP, et al. Eur J Hum Genet. 2017 Apr;25(4). doi: 10.1038/ejhg.2016.185. Epub 2017 Jan 4. Eur J Hum Genet. 2017. PMID: 28051078 Free PMC article. No abstract available.
ABCC9-related Intellectual disability Myopathy Syndrome is a K(ATP) channelopathy with loss-of-function mutations in ABCC9.
Smeland MF, McClenaghan C, Roessler HI, Savelberg S, Hansen GÅM, Hjellnes H, Arntzen KA, Müller KI, Dybesland AR, Harter T, Sala-Rabanal M, Emfinger CH, Huang Y, Singareddy SS, Gunn J, Wozniak DF, Kovacs A, Massink M, Tessadori F, Kamel SM, Bakkers J, Remedi MS, Van Ghelue M, Nichols CG, van Haaften G. Smeland MF, et al. Nat Commun. 2019 Oct 1;10(1):4457. doi: 10.1038/s41467-019-12428-7. Nat Commun. 2019. PMID: 31575858 Free PMC article.
Mutations in genes encoding K(ATP) channel subunits have been reported for pancreatic disorders and Cantu syndrome. Here, we report a syndrome in six patients from two families with a consistent phenotype of mild intellectual disability, similar facies, myopa …
Mutations in genes encoding K(ATP) channel subunits have been reported for pancreatic disorders and Cantu syndrome. Here, we r …
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