Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review

Sclerosteosis (SOST) refers to two extremely rare yet similar skeletal dysplasias featuring a diffusely radiodense skeleton together with congenital syndactyly. SOST1 is transmitted as an autosomal recessive (AR) trait and to date caused by ten homozygous loss-of-function mutations within the gene SOST that encodes the inhibitor of Wnt-mediated bone formation, sclerostin. SOST2 is transmitted as an autosomal dominant (AD) or AR trait and to date caused by one heterozygous or two homozygous loss-of-function mutation(s), respectively, within the gene LRP4 that encodes the sclerostin interaction protein, low-density lipoprotein receptor-related protein 4 (LRP4).

Source: Bone - August 2, 2018 Category: Orthopaedics Authors: Michael P. Whyte, S. Deepak Amalnath, William H. McAlister, Radhakrishna Pedapati, Vivekanandan Muthupillai, Shenghui Duan, Margaret Huskey, Vinieth N. Bijanki, Steven Mumm Tags: Full Length Article Source Type: research