ABCMdb

PMID: 26226329

Nelson PT, Jicha GA, Wang WX, Ighodaro E, Artiushin S, Nichols CG, Fardo DW
ABCC9/SUR2 in the brain: Implications for hippocampal sclerosis of aging and a potential therapeutic target.
Ageing Res Rev. 2015 Nov;24(Pt B):111-25. doi: 10.1016/j.arr.2015.07.007. Epub 2015 Jul 28., [PubMed]

Sentences

No. Mutations Sentence Comment

1213 ABCC9 p.Ala1462Gly Rosser et al. (1998) 3 Developmental delay noted in 2/3 cases Robertson et al. (1999) 2 Developmental delay/mild mental retardation in both cases Concolino et al. (2000) 1 "Psychomotor development was normal" Lazalde et al. (2000) 4 No specific mention of neurological disorders Engels et al. (2002) 1 Brain atrophy and ultrasound-confirmed "bilateral calcification of the Arteriae thalamostriatae" Grange et al. (2006) Woman and two daughters No mention of cognitive or cerebral anomaly Graziadio et al. (2011) 1 "mildly delayed psychomotor development" Scurr et al. (2010) 9 Motor or speech delay in 9/10 cases Kobayashi et al. (2010) 1 Clinical syndrome included "developmental delay" Czeschik et al. (2012) 2 Both with ABCC9 mutations, 1/2 with mild developmental delay Garcia-Gonzalez et al. (2012) 1 Delayed psychomotor development with cerebral cortical atrophy on CT scan van Bon et al. (2012) 9 previously unpublished, 1 father/daughter, 1 sib pair All with ABCC9 mutations, 3 diagnosed with intellectual disability and/or developmental delay, 8/9 with macrocephaly Hiraki et al. (2014) Father and son "mild psychomotor delay ... and an autistic disorder based on the DSM-IV" Park et al. (2014) 1 ABCC9 mutation (p.Ala1462Gly, c.4385C>G) confirmed; atrophic changes of the brain on MRI identify a single particular SNP that met criteria for a statistically significant association with a specific disease. Login to comment 1219 ABCC9 p.Thr1547Ile ABCC9 p.Ala1513Thr ABCC9 p.Val734Ile Clinical condition/ endophenotype Mutation Type* Notes (Refs) Cantu syndrome E, I Apparent autosomal dominant inheritance of functional gain of toxic function; many mutations identified, mostly in exons coding transmembrane domains of SUR2 protein Harakalova et al. (2012); van Bon et al. (2012) Atrial fibrillation E Case of mutation [Thr1547Ile] associated with atrial fibrillation originating in the vein of Marshal Olson, et al. (2007) Dilated cardiomyopathy E Two cases with distinct mutations [frameshift1524, A1513T] associated with dilated cardiomyopathy Bienengraeber et al. (2004) Myocardial infarction, early repolarization syndrome (ERS), and Brugada syndrome (BrS) E Coronary arterial vasospam and myocardial infarction linked to V734I mutation. Login to comment 1220 ABCC9 p.Val734Ile Severe cardiac arhythmias associated with 8 ABCC9 mutations from 11 BrS probands and 4 ERS probands, the latter with V734I mutations. Login to comment