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Marfan syndrome is typically caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. These mutations can result in the production of an abnormal fibrillin-1 protein, leading to the characteristic features of Marfan syndrome such as tall stature, long limbs, and cardiovascular issues.
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What type of mutation is marfan syndrome?
Marfan syndrome is a genetic disorder caused by mutations in the fibrillin-1 (FBN1) gene. These mutations can result in abnormalities in connective tissues, leading to symptoms such as tall stature, long limbs, heart defects, and eye problems.
What is a Missence mutation?
A mutation that causes the code for the wrong amino acid (apexvs.com)
What autosomal disorders in humans are controlled by dominant alleles?
Some autosomal disorders in humans that are controlled by dominant alleles include Huntington's disease, Marfan syndrome, and neurofibromatosis type 1. These disorders are expressed when an individual inherits a single copy of the mutated gene from one parent.
What type of mutation causes protein to be synthesized with one incorrect amino acid?
Missense
A mutation that involves a single nucleotide is called a(an)?
Point Mutation- a type of gene mutation in which only a single nucleotide in a gene has been changed.
What is the type of mutation that causes Digeorge syndrome?
Deletion Mutation causes DiGeorges Syndrome.
What type of mutation causes disorder in marfan syndrome?
Marfan syndrome is primarily caused by mutations in the FBN1 gene, which encodes the protein fibrillin-1. This mutation leads to defects in connective tissue, resulting in symptoms affecting the cardiovascular, skeletal, and ocular systems. The disorder is typically inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene is sufficient to cause the condition.
What type of mutation is marfan syndrome?
Marfan syndrome is a genetic disorder caused by mutations in the fibrillin-1 (FBN1) gene. These mutations can result in abnormalities in connective tissues, leading to symptoms such as tall stature, long limbs, heart defects, and eye problems.
What are other names for Marfan Syndrome?
Marfan Syndrome is also known as Marfan's disease and hereditary connective tissue disorder. In some contexts, it may be referred to as Marfan syndrome type I or simply as a connective tissue disorder. However, the most common and widely recognized name remains Marfan Syndrome.
What may cause Marfan syndrome?
Marfan syndrome is an autosomal dominant condition caused by a genetic mutation. The mutation occurs on chromosome 15 and affects the gene that encodes a protein called fibrillin-1. Over 100 mutations have been described, all of which impair the function of fibrillin-1. The precise reasons for the mutations are unknown. How the mutation manifests as the Marfan syndrome is also uncertain. There is mounting evidence that the fibrillin-1 defect allows for unabated activity of transforming growth factor-beta (TGF-beta), which causes the clinical manifestations of the syndrome (eg, hyperextensible joints, arachnodactyly, dislocation of the lens, aortic aneurysm). Because the condition is inherited in an autosomal dominant pattern, a parent with Marfan syndrome has a 50% chance of passing the defective gene on to his/her offspring. Some diseases are also associated with features that resemble Marfan syndrome. For example, multiple endocrine neoplasia (MEN) type III is associated with what's been called a marfanoid habitus -- patients commonly have the elongated axial bones and hyperextensible joints seen in true Marfan syndrome. MEN-III is caused by a mutation in the RET gene on chromosome 10. It is inherited in an autosomal dominant pattern.
What is the type of mutation that causes hemophilia?
There is no single type of mutation that causes Hemophilia A. It is not the type of mutation but rather the location of the mutation within the genetic code.
What type of mutation causes Edwards' syndrome?
An extra copy of Chromosome 18
Which process could result in the type of cell mutation that causes Down syndrome?
Down's syndrome is caused by trisomy of the 21st chromosome. This is mostly caused when the chromosome pair fails to separate properly (nondisjunction).
What is the type of mutation that causes crohn's disease?
A frameshift mutation in the CARD15 gene
What is the type of mutation that causes this disorder?
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What is the type of mutation that causes Adrenoleukodystrophy?
deletion
What chromosome is affected by Marfan syndrome?
Since the traits for hemophilia are carried on the X chromosome and not the Y, it is more probable for females to have a chromosome with the mutation. Since the mutation is considered recessive and males only have one X chromosome, they are more likely to portray the phenotype for hemophilia than their female counterparts.
