Paternally Inherited GABRB3 Intragenic Deletion in a Boy with Autistic Features and Angelman Syndrome Phenotype–Case Report and Literature Review
نویسندگان
چکیده
We report on a 4 year old patient with a unique paternally inherited single-exon GABRB3 gene deletion and clinical findings of severe speech delay, intellectual disability, autistic features, unusual behavior, tremor, and history of seizures and gait abnormalities. Similarities and significant differences with other cases involving rearrangements of 15q11-q13 are discussed. Further on, we provide literature review of the clinical picture of GABRB3 mutations.
منابع مشابه
ELECTRONIC LETTER A patient with a supernumerary marker chromosome (15), Angelman syndrome, and uniparental disomy resulting from paternal meiosis II non-disjunction
The chromosome 15 region q11-q13 is imprinted and contains a number of genes that are expressed only from the paternally or the maternally inherited chromosome. This region is also prone to structural rearrangements including interstitial duplications and triplications, inversions, translocations, deletions, and the formation of supernumerary marker chromosomes (SMCs). 7 These rearrangements ar...
متن کاملA patient with a supernumerary marker chromosome (15), Angelman syndrome, and uniparental disomy resulting from paternal meiosis II non-disjunction.
The chromosome 15 region q11-q13 is imprinted and contains a number of genes that are expressed only from the paternally or the maternally inherited chromosome. This region is also prone to structural rearrangements including interstitial duplications and triplications, inversions, translocations, deletions, and the formation of supernumerary marker chromosomes (SMCs). 7 These rearrangements ar...
متن کاملMice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome.
Angelman syndrome (AS) is a severe neurodevelopmental disorder resulting from a deletion/mutation in maternal chromosome 15q11-13. The genes in 15q11-13 contributing to the full array of the clinical phenotype are not fully identified. This study examines whether a loss or reduction in the GABAA receptor beta3 subunit (GABRB3) gene, contained within the AS deletion region, may contribute to the...
متن کاملFrameshift Mutations (Deletion at Codon 1309 and Codon 849) in the APC Gene in Iranian FAP Patients: a Case Series and Review Of The literature
Familial adenomatous polyposis (FAP) is responsible for <1% of colorectal cancer (CRC) cases and is inherited as an autosomal dominant trait. Patients generally present hundreds to thousands of adenomas and develop colorectal cancer by age 35- 40 if left untreated. Here we report four patients with germline frameshift mutation (small deletion) at exon 15 of adenomatous polyposis coli (APC) tumo...
متن کاملA Case Report of Gardner's Syndrome and a Review of Literature
Gardner's syndrome is an autosomal dominant inherited disorder. Familial polyposis of the colon, osteomas, hypertrophy of the retinal-pigmented layer and a multitude of soft tissue tumors are characteristic features. The syndrome may be presented with colonic or extracolonic symptoms. A 75-year-old male patient presented to Al-zahra Clinic with diffuse abdominal pain. An abdominal surgery wa...
متن کامل