In a Pakistani family with limb malformations that include short fingers, cross fingers, fused fingers, fused finger bones, fused toes and supernumerary toes plus skeletal defects that include scoliosis, dislocated patellae and fibulae and pectus excavatum, we identified the underlying mutation as a homozygous five-amino acid deletion in protein CHST11. Our findings confirm the crucial role of CHST11 in skeletal morphogenesis and show that CHST11 defects have variable phenotypic manifestations that include a variety of limb malformations and skeletal defects. Also, elder patients had symptoms of arthritis, concordant with studies that have identified CHST11 locus as a susceptibility locus for osteoarthritis. (Dr. Aslı Tolun, http://jmg.bmj.com/content/early/2018/03/07/jmedgenet-2017-105003 )
Dr. Aslı Tolun’s group