Understanding the molecular basis of Apert syndrome.
Apert syndrome, first described in 1906, is one of the most severe of the craniosynostosis syndromes and is further characterized by midface hypoplasia, syndactyly, and other visceral abnormalities. Affected individuals generally require lifelong management by a multidisciplinary team of health care specialists. Apert syndrome results almost exclusively from one or the other of two point mutations in fibroblast growth factor receptor 2. Tremendous scientific advances have been made recently in understanding the molecular basis for Apert syndrome through clinical genetic, biochemical, and structural approaches. In this review, the authors provide the clinician with a basic overview of these findings and their therapeutic implications.
Ibrahimi
Omar A
OA
Department of Pharmacology and the Institute of Reconstructive Plastic Surgery, New York University School of Medicine, New York, NY 10016, USA.
Chiu
Ernest S
ES
McCarthy
Joseph G
JG
Mohammadi
Moosa
M
D000168:Acrocephalosyndactylia / Q000235:genetics* / Q000473:pathology; D017398:Alternative Splicing; D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics; D005260:Female; D016222:Fibroblast Growth Factor 2 / Q000378:metabolism; D005799:Genes, Dominant; D006801:Humans; D006860:Hydrogen Bonding; D007231:Infant, Newborn; D008297:Male; D008958:Models, Molecular; D020125:Mutation, Missense; D010331:Paternal Age; D010641:Phenotype; D017354:Point Mutation; D011485:Protein Binding / Q000235:genetics; D011487:Protein Conformation; D020033:Protein Isoforms / Q000235:genetics / Q000502:physiology; D020794:Receptor Protein-Tyrosine Kinases / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D013329:Structure-Activity Relationship
D003062:Codon; D020033:Protein Isoforms; D017468:Receptors, Fibroblast Growth Factor; D016222:Fibroblast Growth Factor 2; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2