کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5904870 1569495 2013 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - Support for the role of K(ATP) channels in this condition
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - Support for the role of K(ATP) channels in this condition
چکیده انگلیسی

KCNJ8 (NM_004982) encodes the pore forming subunit of one of the ATP-sensitive inwardly rectifying potassium (KATP) channels. KCNJ8 sequence variations are traditionally associated with J-wave syndromes, involving ventricular fibrillation and sudden cardiac death. Recently, the KATP gene ABCC9 (SUR2, NM_020297) has been associated with the multi-organ disorder Cantú syndrome or hypertrichotic osteochondrodysplasia (MIM 239850) (hypertrichosis, macrosomia, osteochondrodysplasia, and cardiomegaly). Here, we report on a patient with a de novo nonsynonymous KCNJ8 SNV (p.V65M) and Cantú syndrome, who tested negative for mutations in ABCC9. The genotype and multi-organ abnormalities of this patient are reviewed. A careful screening of the KATP genes should be performed in all individuals diagnosed with Cantú syndrome and no mutation in ABCC9.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 56, Issue 12, December 2013, Pages 678-682
نویسندگان
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