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. 2020 Sep;34(9):e476-e478.
doi: 10.1111/jdv.16384. Epub 2020 May 6.

A novel mutation in the KCNJ8 gene encoding the Kir6.1 subunit of an ATP-sensitive potassium channel in a Japanese patient with Cantú syndrome

M Chihara  1 , A Asahina  1 , M Itoh  1   2
Affiliations

A novel mutation in the KCNJ8 gene encoding the Kir6.1 subunit of an ATP-sensitive potassium channel in a Japanese patient with Cantú syndrome

M Chihara et al. J Eur Acad Dermatol Venereol. 2020 Sep.

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No abstract available

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References

    1. Cantú JM, Garcia-Cruz D, Sánchez-Corona J, Hernández A, Nazará Z. A distinct osteochondrodysplasia with hypertrichosis-Individualization of a probable autosomal recessive entity. Hum Genet 1982; 60: 36-41.
    1. Kirk EP, Scurr I, Van Haaften G et al. Clinical utility gene card for: Cantú syndrome. Eur J Hum Genet 2017; 25: e1-e4.
    1. Hibino H, Inanobe A, Furutani K, Murakami S, Findlay I, Kurachi Y. Inwardly rectifying potassium channels: their structure, function, and physiological roles. Physiol Rev 2010; 90: 291-366.
    1. Bienengraeber M, Olson TM, Selivanov VA et al. ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. Nat Genet 2004; 36: 382-387.
    1. Olson TM, Alekseev AE, Moreau C et al. KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation. Nat Clin Pract Cardiovasc Med 2007; 4: 110-116.

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