A Novel Mutation inRPL10(Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.

RPL10 encodes ribosomal protein L10 (uL16), a highly conserved multifunctional component of the large ribosomal subunit, involved in ribosome biogenesis and function. Using X-exome resequencing, we identified a novel missense mutation (c.191C>T; p.(A64V)) in the N-terminal domain of the protein, in a family with two affected cousins presenting with X-linked intellectual disability, cerebellar h...

6.4 Spondylo-epiphyseal dysplasia – a physiotherapy approach

Materials and methods A retrospective review was completed on 6 cases of SED. All physiotherapy assessments of joint range of movement, muscle strength, balance and gait were included. The physiotherapy programme included stretches to restricted joints and a progressive resisted strengthening programme (high repetitions and low resistance weights) completed into the full range of movement of mo...

Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondylo-epiphyseal dysplasia congenita.

Skeletal dysplasia is a group of disorders with more than 450 entities, many of which cannot be differentiated, especially during infancy, but could lead to different clinical courses and prognoses. In this study, we have described a case of a Thai infant with short stature, flat face, pectus carinatum, indirect inguinal hernia, platyspondyly, and generalized delayed endochondral ossification. ...

X-linked spondylo-epiphyseal dysplasia tarda in the Danish-Swedish farm hound.

In two litters from the same parents, three out of four males had an abnormally short leg and body length. Affected dogs showed signs of pain when moving, which could be eliminated by analgesia. On radiography, these animals had widened, radiolucent, irregularly bordered intervertebral disc spaces. When examined at seven months of age, the epiphyses appeared widened and irregular in shape and o...

A mutation in COL9A2 causes multiple epiphyseal dysplasia (EDM2).