A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

摘要: Molecular karyotyping is being increasingly applied to delineate novel disease causing microaberrations and related syndromes in patients with mental retardation of unknown aetiology. We report on three unrelated overlapping de novo interstitial microdeletions involving 5q14.3-q15. All presented severe psychomotor retardation, epilepsy or febrile seizures, muscular hypotonia variable brain minor anomalies. revealed measuring 5.7, 3.9 3.6 Mb, respectively. The were identified using single nucleotide polymorphism (SNP) arrays (Affymetrix 100K Illumina 550K) array comparative genomic hybridization (1 Mb Sanger array-CGH). Confirmation segregation studies performed fluorescence situ (FISH) quantitative PCR. aberrations confirmed proven have occurred novo. boundaries sizes the deletions different, but an region around 1.6 5q14.3 was defined. It included five genes: CETN3, AC093510.2, POLR3G, LYSMD3 proximal part GPR98/MASS1, a known gene. Haploinsufficiency GPR98/MASS1 probably responsible for seizure phenotype our patients. At least one other gene contained commonly deleted region, LYSMD3, shows high level central nervous expression during embryogenesis also, therefore, good candidate system (CNS) symptoms, such as anomalies microdeletion syndrome.