| The recessive mutant mouse named bate-palmas (bapa) – claps in Portuguese, originates from an ENU (N-ethyl-N-nitrosourea) mutagenesis program, presenting balance impairment and motor incoordination. Exome sequencing identified a mutation in the KMT2D gene, located on chromosome 15, which was confirmed by DNA sequence by the Sanger method. The loss of function of the gene KMT2D, located on chromosome 12 in humans, was described as being responsible for Kabuki syndrome, also known as Niikawa-Koruki syndrome, which is a rare congenital anomaly, autosomal dominant. The clinical phenotype of the disease is variable, but some common characteristics are dysmorphic facial features, skeletal abnormalities, fingerprint alterations, mild to moderate cognitive... |
