Article
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
American journal of human genetics - 12 Aug 2011
Sirmaci Asli, Spiliopoulos Michail, Brancati Francesco, Powell Eric, Duman Duygu, Abrams Alex, Bademci Guney, Agolini Emanuele, Guo Shengru, Konuk Berrin, Kavaz Asli, Blanton Susan, Digilio Maria Christina, Dallapiccola Bruno, Young Juan, Zuchner Stephan, Tekin Mustafa
Abstract excerpt
KBG syndrome is characterized by intellectual disability associated with macrodontia of the upper central incisors as well as distinct craniofacial findings, short stature, and skeletal anomalies. Although believed to be genetic in origin, the specific underlying defect is unknown. Through whole-exome sequencing, we identified deleterious heterozygous mutations in ANKRD11 encoding ankyrin repeat domain 11, also...
Topics
- Abnormalities, Multiple
- Adult
- Amino Acid Sequence
- Base Sequence
- Bone Diseases, Developmental
- Bone and Bones
- Cell Nucleus
- Child
- DNA Mutational Analysis