Birth prevalence study of the apert syndrome

Abstract

Estimates of the Apert syndrome birth prevalence and the mutation rate are reported for Washington State, Nebraska, Denmark, Italy, Spain, Atlanta, and Northern California. Data were pooled to increase the number of Apert births (n = 57) and produce a more stable birth prevalence estimate. Birth prevalence of the Apert syndrome was calculated to be approximately 15.5/1,000,000 births, which is twice the rate determined in earlier studies. The major reason appears to be incomplete ascertainment in the earlier studies. The similarity of the point estimates and the narrow bounds of the confidence limits in the present study suggest that the birth prevalence of the Apert syndrome over different populations is fairly uniform. The mutation rate was calculated to be 7.8 x 10(-6) per gene per generation. Apert syndrome accounts for about 4.5% of all cases of craniosynostosis. The mortality rate appears to be increased compared to that experienced in the general population; however, further study of the problem is necessary.

Apert p.Ser252Trp Mutation in FGFR2 Alters Osteogenic Potential and Gene Expression of Cranial Periosteal Cells

“…FGFR activation by FGFs (fibroblast growth factors) can induce several different cell processes, such as differentiation, proliferation, migration, and apoptosis by Roberto D Fanganiello, 1 Andréa L Sertié, 1 Eduardo M Reis, 2 Erika Yeh, 1 Nélio AJ Oliveira, 1 Daniela F Bueno, 1 Irina Kerkis, 3 Nivaldo Alonso, 4 Sérgio Cavalheiro, 5 Hamilton Matsushita, 5 Renato Freitas, 6 Sergio Verjovski-Almeida, 2 and Maria Rita Passos-Bueno Apert syndrome (AS), a severe form of craniosynostosis, is caused by dominant gain-of-function mutations in FGFR2. Because the periosteum contribution to AS cranial pathophysiology is unknown, we tested the osteogenic potential of AS periosteal cells (p.Ser252Trp mutation) and observed that these cells are more committed toward the osteoblast lineage.…”

Association between Apert Syndrome and Atrial Septal Defect

“…This syndrome, first described by Apert in 1906, is rarely found in craniosynostoses (1). Mutation in the FGF receptor gene was found in more than 90% of the patients.…”

“…There is no family history in most cases, and sporadic mutations have been shown. Progressive cutaneus and bone syndactyly, midfacial hypoplasia, and craniosynostosis are the most characteristic features (1). Various cardiovascular system anomalies may accompany Apert syndrome (2).…”

The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes: A literature review and three case reports

“…Apert syndrome is a distinct craniosynostosis because of its characteristic malformations of the hands and feet, with symmetric syndactyly that involves the second, third and fourth digit. 59 Pfeiffer syndrome shows craniosynostosis, broad thumb and great toes, both possessing a valgus deformity, cardiovascular malformations and soft-tissue syndactyly of hand and feet. Further determinations can be done by measuring the angles between these extended digits.…”