What does this protein make up or do? conductive hearing loss Chapter 17: Chromosome 17 DNA Sequence Chromosome 1892 bp Name of Protein 17 Name of Gene Noggin NOG transcription Amino acid sequence mRNA 232 translation Cytoplasm A Cell Nucleus What does this protein make up or do? Inactivates certain genes Condition/Disease conductive hearing loss

Description of conductive hearing loss Symptoms and characteristics Noggin is encoded by NOG and mutations in the gene are associated with aberrant skeletal formation, such as in the autosomal dominant disorders proximal symphalangism. At first, investigated a Japanese pedigree with SYM1 and conductive hearing loss and found that it carried a novel heterozygous missense mutation of NOG. If Noggin isn’t cured a lot of people wont be able to hear until it is cured. Affinity of NOG with the p.R136C mutation to HSPG leads to an excess of BMP signaling and underlies the SYM1 and conductive hearing loss phenotype of carriers.

Description of conductive hearing loss (cont.) Who is affected? Anyone, but the following have a higher risk: It can happen to anyone no matter the age Everyone over the age of 60, especially Americans People with a family history of noggin Outlook or quality of life With early treatment, ears may be protected from serious hearing loss Without treatment, individuals develop noggin and won’t be able to hear treatments such as laser procedure and/or surgery. There is no cure for noggin; hearing that is lost cannot be restored. Researcher: ND

References NCBI. Genes and Disease: Noggin [online]. 2015. [cited 2015 March 2]. Available at URL: http://ghr.nlm.nih.gov/gene/NOG. NCBI. [online]. 2003. [cited 2015 April 2]. Available at URL: http://www.ncbi.nlm.nih.gov/pubmed/24735539/ NCBI. NOG And When To Detect It http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3988005/