Chapter 1: Chromosome 1 y A Cell Nucleus 35,068 225 aa SHOXb Cytoplasm DNA Sequence Chromosome 35,068 Name of Protein y Name of Gene short stature homeobox SHOXb transcription Amino acid sequence mRNA 225 aa translation Cytoplasm A Cell Nucleus What does this protein make up or do? Disorder of bone growth grgowt Condition/Disease Lenger mesomelic dysplasia

Description of Langer mesomelic dysplasia Symptoms and characteristics displacement deformities of the hands and feet

Description of Langer mesomelic dysplasia Who is affected? The incidence is less than 1/1.000.000. Less than 50 cases have been reported so far. Outlook or quality of life There is no known cure. In selected patients orthopaedic surgery may be helpful to try to gain some functionality of severely impaired joints. Life expectancy is normal Diagnosis may be suspected on the basis of the clinical and radiologic findings, and can supported by molecular analysis of the SHOX, SHOXY and PAR1 genes. May also be suspected by ultrasound during the second trimester of gestation. Researcher: VA

References http://en.wikipedia.org/wiki/Langer_mesomelic_dysplasia#Diagnosis http://www.ncbi.nlm.nih.gov/protein/CAA72298.1 http://ghr.nlm.nih.gov/condition/langer-mesomelic-dysplasia