ADULT syndrome: phenotype in a Brazilian family with the R298Q mutation

Protein families are groups of homologous proteins; that is, they have similarities in amino acid sequences and three-dimensional structures. Protein families usually occur because of gene duplication, where an additional copy of a gene is inserted into the genome of an organism.   Mutations that change the amino acids but still allow the protein to be properly synthesized, will lead to new protein family members.   If these new proteins contain similar amino acids in key...

Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...

Other adult family members and siblings play a crucial role in shaping children’s social and emotional development. While parents or primary caregivers are often the central figures in early attachment and socialization, other adults in a child’s life, such as grandparents, aunts, and uncles, can significantly influence developmental outcomes. These influences depend on each adult’s personality and may help compensate when a primary caregiver is emotionally distant or...

Overview