Article
Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome.
BMC medical genomics - 18 Dec 2024
Ren Rong, Liu Yedan, Liu Peipei, Zhao Jing, Hou Mei, Li Shuo, Chen Zongbo, Yuan Aiyun
Abstract excerpt
BACKGROUND: Kleefstra syndrome spectrum (KLEFS) is an autosomal dominant disorder that can lead to intellectual disability and autism spectrum disorders. KLEFS encompasses Kleefstra syndrome-1 (KLEFS1) and Kleefstra syndrome-2 (KLEFS2), with KLEFS1 accounting for more than 75%. However, limited information is available regarding KLEFS2. KLEFS1 is caused by a subtelomeric chromosomal abnormality resulting in...
Topics
- Humans
- Intellectual Disability
- Male
- Chromosomes, Human, Pair 9
- Chromosome Deletion
- Female
- Histone-Lysine N-Methyltransferase
- Craniofacial Abnormalities
- Child
- Child, Preschool
- DNA-Binding Proteins
- Craniosynostoses
- Infant