Final answer:
Neurofibromatosis NF1, also known as von Recklinghausen's disease, is an autosomal dominant disorder where individuals have a 50% chance of passing the disease to their children. This condition is caused by a gene mutation on chromosome 17 that impairs the function of the neurofibromin protein.
Step-by-step explanation:
Neurofibromatosis NF1 is also known as von Recklinghausen's disease. It is an autosomal dominant genetic disorder caused by a mutation in the gene on chromosome 17 that encodes for neurofibromin, a protein that helps regulate cell growth. Individuals with the NF1 mutation have a 50% chance of passing the disorder to their offspring, as depicted in the inheritance pattern utilizing a Punnett square.
When considering a couple where one parent is heterozygous (Nn) and the other parent is homozygous for the normal allele (nn), their children have a 50% likelihood of inheriting neurofibromatosis. The possible offspring genotypes—Nn or nn—are equally likely to occur due to the dominant nature of the mutated allele (N). This type of inheritance is part of a broader category of genetic disorders that includes various diseases and syndromes such as Mowat-Wilson syndrome, Noonan syndrome, and osteogenesis imperfecta among others.
An autosomal dominant disorder means that only one copy of the mutated gene is necessary for an individual to be affected. This contrasts with recessive disorders, such as cystic fibrosis, where two copies of the mutated gene are needed to express the disease. Examples of other autosomal dominant disorders include multiple endocrine neoplasia and Li-Fraumeni syndrome.