A report of another Egyptian patient with Temtamy preaxial brachydactyly syndrome associated with a novel nonsense CHSY1 mutation

Genetics and Genomic Medicine in Egypt: steady pace

“…; Aglan et al. ) and homozygous FGFR3 mutation which causes a new autosomal recessive syndrome of tall stature and severe lateral tibial deviation (Makrythanasis et al. ); and identification of new genes that cause rare recessive disorders, for example, Ostrix mutation as a cause of autosomal recessive osteogenesis imperfecta in humans (Lapunzina et al.…”

“…It is worth emphasizing our study of numerous rare autosomal recessive disorders, for example, Autosomal recessive Robinow syndrome (Aglan et al 2016) and Roberts syndrome , because of the high frequency of consanguinity in Egyptians ranging in various governorates from 27.3% to 46.5% and even delineation of new, previously unknown disorders, for example, Temtamy preaxial brachydactyly syndrome Li et al 2010;Aglan et al 2014) and homozygous FGFR3 mutation which causes a new autosomal recessive syndrome of tall stature and severe lateral tibial deviation (Makrythanasis et al 2014); and identification of new genes that cause rare recessive disorders, for example, Ostrix mutation as a cause of autosomal recessive osteogenesis imperfecta in humans (Lapunzina et al 2010) and ANTXR1 gene for GAPO syndrome (Hoischen et al 2013).…”