Is maple syrup urine disease a frameshift mutation?

Is maple syrup urine disease a frameshift mutation?

The five children studied are the first cases of classic maple syrup urine disease to be reported among Cypriots. The first novel mutation identified is a single-base deletion in exon 6 of the Elalpha gene (c. 718delG), which leads to a frameshift after Ala240 and to a stop codon 89 residues further downstream.

What is the cause of maple syrup urine disease?

Maple syrup urine disease (MSUD) is inherited, which means it is passed down through families. It is caused by a defect in 1 of 3 genes. People with this condition cannot break down the amino acids leucine, isoleucine, and valine. This leads to a buildup of these chemicals in the blood.

What gene or chromosome is affected by maple syrup urine disease?

A number sign (#) is used with this entry because maple syrup urine disease (MSUD) can be caused by homozygous or compound heterozygous mutation in at least 3 genes: BCKDHA (608348) on chromosome 19q13, BCKDHB (248611) on chromosome 6q14, and DBT (248610) on chromosome 1p21.

What is a frameshift mutation?

Definition. A frameshift mutation in a gene refers to the insertion or deletion of nucleotide bases in numbers that are not multiples of three. This is important because a cell reads a gene’s code in groups of three bases when making a protein.

What type of mutation is missense?

A genetic alteration in which a single base pair substitution alters the genetic code in a way that produces an amino acid that is different from the usual amino acid at that position.

When does maple syrup urine disease occur?

Symptoms of classic MSUD appear in newborns within 48 hours of birth. In older children, signs of intermediate, intermittent, and thiamine-responsive MSUD usually develop before age seven.

Is Alkaptonuria autosomal recessive?

Alkaptonuria is inherited as an autosomal recessive trait. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent.

What chromosome is MSUD found on?

What does autosomal mean?

“Autosomal” means that the gene in question is located on one of the numbered, or non-sex, chromosomes. “Dominant” means that a single copy of the mutated gene (from one parent) is enough to cause the disorder.

What is a deletion mutation?

A deletion, as related to genomics, is a type of mutation that involves the loss of one or more nucleotides from a segment of DNA. A deletion can involve the loss of any number of nucleotides, from a single nucleotide to an entire piece of a chromosome.

What type of mutation is cystic fibrosis caused by?

Abstract. Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) anion channel. The most common CF-associated mutation is ΔF508, which deletes a phenylalanine in position 508.

What diseases are caused by frameshift mutations?

Diseases caused by frameshift mutations in genes include Crohn’s disease, cystic fibrosis, and some forms of cancer.