WAARDENBURG

DIAGNOSIS

• Age of patient: 4 months old
• Symptoms: hearing loss, pigment discoloration
• Possible syndrome: Neurofibromatosis Type 2
• Actual syndrome: Waardenburg Type 2

GENETICS

• Chromosome#'s: 3 and 8
• Genes: MITF and SNAI2
• Proteins: Microphthalmia-associated Transcription Factor and Snail 2
• Normal protein function: cell function and tissue formation
• The lack of protein affects them because of ⬆️

MEDICAL

• Commonality: 1 in 40,000 people
• Treatment: N/A
• Complications: Deaf may be problematic

INHERITANCE

• Types: autosomal dominant
• Punnet square possibilities ➡️

SOURCES

• http://www.babyhearing.org/hearingamplification/causes/genetics.asp
• http://ghr.nlm.nih.gov/gene/MITF
• http://rarediseases.info.nih.gov/gard/5520/waardenburg-syndrome-type-2/reso...
• http://ghr.nlm.nih.gov/gene/SNAI2