Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

Eur J Med Genet 2013 Dec 28;56(12):678-82. Epub 2013 Oct 28.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:

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.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2013.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3902017PMC
December 2013
80 Reads
16 Citations
1.490 Impact Factor

Publication Analysis

Top Keywords

cantú syndrome
16
katp channels
8
syndromes involving
4
multi-organ abnormalities
4
j-wave syndromes
4
abnormalities patient
4
genotype multi-organ
4
involving ventricular
4
snv pv65m
4
ventricular fibrillation
4
abcc9 genotype
4
associated j-wave
4
239850 hypertrichosis
4
hypertrichosis macrosomia
4
kcnj8 sequence
4
reviewed careful
4
channels kcnj8
4
sequence variations
4
patient reviewed
4
traditionally associated
4

Similar Publications