ABCMdb

ABCC9 p.Ala1462Gly

None has been submitted yet.

Publications

PMID: 26226329 [PubMed] Nelson PT et al: "ABCC9/SUR2 in the brain: Implications for hippocampal sclerosis of aging and a potential therapeutic target."

No. Sentence Comment

1213 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 (2012) 9 previously unpublished, 1 father/daughter, 1 sib pair All with ABCC9 mutations, 3 diagnosed with intellectual disability and/or developmental delay, 8/9 with macrocephaly Hiraki et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