M Martines

Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome

When normal development and growth of the calvarial sutures is disrupted, craniosynostosis (premature calvarial suture fusion) may result. Classical craniosynostosis syndromes are autosomal dominant traits and include Apert, Pfeiffer, Crouzon, Jackson–Weiss, and Saethre–Chotzen syndromes. In these conditions, there is premature fusion of skull bones leading to an abnormal head shape, ocular hypertelorism with proptosis, and midface hypoplasia. It is known that mutations in the fibroblast growth factor receptors 1, 2, and 3 cause craniosynostosis. We report on a child with a clinically diagnosed Pfeiffer syndrome that shows the missense point mutation Q289P in exon 8 of the FGFR2 gene. This is a mutation not previously described in the Pfeiffer syndrome but reported in the Crouzon, Jackson–Weiss, and Saethre–Chotzen syndromes. In this paper, we propose the concept that these disorders may represent one genetic condition with phenotypic variability.

SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down’s syndrome subjects with undescended testes

Down’s syndrome (DS) is one of the most common numer-ical chromosomal aberrations, usually caused by trisomy ofchromosome 21, and is frequently complicated with congen-ital heart defects, duodenal obstruction and other conditionsincluding undescended testis (UDT) (Fonkalsrud 1970). Theincidence of undescended testes in DS was reported to be6.52% (Chew and Hutson 2004) while the incidence of UDTin the first year is approximately 0.2%–0.8% in the nor-mal population (Benson