Which of the following is FALSE regarding Neurofibromatosis inheritance:: (A) Von Recklinghausen's Disease is due to defect in chromosome 17, (B) Autosomal dominant type of inheritance, (C) NF-2 - Musculoskeletal deformities is characterstic, (D) NF-1 - Most common single gene disorder affecting human nervous system.
Answer is C. NEUROFIBROMATOSIS (NF) NF - 1/Von Recklinghausen's Disease NF-2/Bilateral acoustic neurofibromatosis Most common single gene disorder affecting human nervous system. Peripheral neurofibromatosis, is due to defect in chromosome 17. AD inheritance 100% penetrance Due to defect in long arm of chromosome 22. AD inheritance Musculoskeletal deformities absent 8th nerve vestibular schwannomas Meningioma occur in 50% cases. Note: Usually Skeletal disorders are Autosomal Dominant and Inborn errors of metabolism are autosomal recessive