Clinical phenotypes and molecular findings in ten Chinese patients with Kleefstra Syndrome Type 1 due to EHMT1 defects.

Abstract excerpt

BACKGROUND: Kleefstra syndrome type 1 (KS1, OMIM#610253) is a rare autosomal-dominant Mendelian disorder due to heterozygous mutations in the EHMT1 gene or heterozygous deletion of genomic segment of 9q34.3(9qdel). Neurodevelopmental disorder (NDD), intellectual disability (ID) and childhood-onset hypotonia are the well-known phenotypes of KS1. However, these findings were all investigated based on western...

Topics

• Child, Preschool
• Chromosome Deletion
• Chromosomes, Human, Pair 9
• Craniofacial Abnormalities
• Female
• Heart Defects, Congenital
• Heterozygote
• Histone-Lysine N-Methyltransferase
• Humans
• Infant
• Intellectual Disability
• Male
• Mutation
• Phenotype
• Protein Domains