Abstract The patient is a 10-month and 21-day-old girl who began to show developmental delays at 3 months of age, with severe language developmental disorders, stereotyped movements, and easily provoked laughter. Physical examination revealed fair skin and a flattened occiput. At 10 months of age, a video electroencephalogram suggested atypical absence seizures, with migrating slow-wave activity observed during the interictal period. Whole exome sequencing of three family members indicated a novel mutation in the AP2M1 gene, c.508C>T (p.R170W), in the patient. A total of six cases of autosomal dominant intellectual developmental disorder 60 with seizures associated with mutations in the AP2M1 gene have been reported both domestically and internationally (including this study). The main clinical features included developmental delays (6 cases), language developmental disorders (5 cases), stereotyped movements (3 cases), a tendency to smile (1 case), and atypical absence seizures (4 cases). Interictal electroencephalograms showed widespread spike waves and spike-slow wave discharges (5 cases), and migrating slow-wave activity (1 case). The c.508C>T (p.R170W) mutation may be a hotspot for mutations in the AP2M1 gene, and its clinical features are similar to those of Angelman syndrome.
SUN Ying-Ying,LIU Hui,LIU Miao et al. Autosomal dominant intellectual developmental disorder 60 with seizures: a case report[J]. CJCP, 2024, 26(12): 1362-1366.
SUN Ying-Ying,LIU Hui,LIU Miao et al. Autosomal dominant intellectual developmental disorder 60 with seizures: a case report[J]. CJCP, 2024, 26(12): 1362-1366.
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015, 17(5): 405-424. PMID: 25741868. PMCID: PMC4544753. DOI: 10.1038/gim.2015.30.
Ricotta D, Conner SD, Schmid SL, et al. Phosphorylation of the AP2 mu subunit by AAK1 mediates high affinity binding to membrane protein sorting signals[J]. J Cell Biol, 2002, 156(5): 791-795. PMID: 11877457. PMCID: PMC2173304. DOI: 10.1083/jcb.200111068.
Helbig I, Lopez-Hernandez T, Shor O, et al. A recurrent missense variant in AP2M1 impairs clathrin-mediated endocytosis and causes developmental and epileptic encephalopathy[J]. Am J Hum Genet, 2019, 104(6): 1060-1072. PMID: 31104773. PMCID: PMC6556875. DOI: 10.1016/j.ajhg.2019.04.001.
