A Missense Mutation in COL10A1 Gene in a Pakistani Consanguineous Family with Schmid Type Metaphyseal Chondrodysplasia
Saima Mustafa1, Firdous Bukhari1, Muhammad Nazar Aftab1, Muhammad Asif1, Muhammad Amjad1, Maryam Ijaz1, Muhammad Latif2 and Furhan Iqbal1*
Pedigree and clinical manifestations. A, Pedigree of a consanguineous Pakistani family segregating autosomal dominant form of metaphyseal chondrodysplasia Schmid type. Double lines are indicative of consanguineous union. Clear symbols represent unaffected individuals while filled symbols represent affected individuals. The diagonal line through a symbol is indicative of a deceased family member. B, affected individual IV-13, V-17, IV-1, V-10, V-13, V-12, IV-6 from enrolled family showing disproportionate short stature with bowed legs.
A, Radiographic features from lower limbs of a metaphyseal chondrodysplasia, Schmid type (MCDS) patient (IV-13 shown in 1B). B, Radiographic features from lower limbs of a normal subject (V-13 shown in 1B). MCDS patient had bowed lower legs, coxa valga, metaphyseal widening and sclerosis while these changes were not observed in control subject.
Chromatogram and Clustal Omega alignment of COL10A1. A, Chromatogram for COL10A1 selected region showing c.2011 A > G transition. B B, Multiple sequence alignment of COL10A1 from six different organisms performed with Clustal Omega showing p.Ser671Pro (shown in bold) conservation in diverse vertebral species.