Three novel F8 mutations in sporadic haemophilia A cases

Three novel F8 mutations in sporadic haemophilia A cases

Hemophilia A (HA) is an X-linked hereditary disorder characterized by bleeding of variable severity through mild, moderate to severe owing to large range of mutations in the Factor VIII (F8) gene (Bowen 2002). All kind of F8 mutations, except repeats, have been reported for HA, in total up to 2370 (Human Genome Mutation Database 2005). A preliminary study was conducted in our lab for identifica...

Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia

Gnathodiaphyseal dysplasia (GDD; MIM#166260) is an autosomal dominant syndrome with characteristic cemento-osseous lesions of jawbones, bone fragility, and diaphyseal sclerosis of tubular bones. To date, only five mutations in the proposed calcium-activated chloride channel ANO5/TMEM16E gene have been identified. In this study, we describe two families and two singular patients with three new m...

Three Novel Mutations in Iranian Patients with Tay-Sachs Disease

Background: Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing mutations in‌ an Iranian population. Methods: In this study, we examined 31 patients for TSD-causing m...

Origin of mutation in sporadic cases of severe haemophilia A in Sweden.

UNLABELLED Many newly diagnosed Swedish severe haemophilia A (HA) patients are sporadic cases. Some genotypically non-carrier mothers have gone on to have two descendants with the same mutation, presumably because of mosaicism. AIMS To define the origin of mutation in sporadic cases of HA, reveal possible sex-specific differences in mutagenesis and identify potential mosaics among non-carrier...

Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia.