Article
Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11-q13 imprinting region.
Brain and behavior - 1 Apr 2024
Mim Rabeya Akter, Soorajkumar Anjana, Kosaji Noor, Rahman Muhammad Mizanur, Sarker Shaoli, Karuvantevida Noushad, Eshaque Tamannyat Binte, Rahaman Md Atikur, Islam Amirul, Chowdhury Mohammod Shah Jahan, Shams Nusrat, Uddin K M Furkan, Akter Hosneara, Uddin Mohammed
Abstract excerpt
BACKGROUND: The 15q11-q13 region is a genetic locus with genes subject to genomic imprinting, significantly influencing neurodevelopment. Genomic imprinting is an epigenetic phenomenon that causes differential gene expression based on the parent of origin. In most diploid organisms, gene expression typically involves an equal contribution from both maternal and paternal alleles, shaping the phenotype....
Topics
- Humans
- Female
- Male
- Animals
- Mice
- DNA Copy Number Variations
- Alleles
- Angelman Syndrome
- Prader-Willi Syndrome
- Bangladesh
- Mammals