How many types of osteogenesis imperfecta are there?

There are at least 8 different types of the disease. The types vary greatly, both within and between types. They are based on the type of inheritance (see below), and signs and symptoms.

What causes osteogenesis imperfecta Type 4?

OI type IV is caused by changes ( mutations ) in the COL1A1 or COL1A2 gene and is inherited in an autosomal dominant manner. There is currently no cure for OI type IV. Treatment is supportive and based on the signs and symptoms present in each person.

Is osteogenesis imperfecta Type 1 a disability?

Most people with OI experience physical disability. OI also can cause weak muscles, brittle teeth, a curved spine, and hearing loss. Most forms of OI are caused by abnormal genes that are passed down from one or both parents to their children. There are currently 11 types of OI.

What causes osteogenesis imperfecta Type 3?

OI type III is caused by changes ( mutations ) in the COL1A1 or COL1A2 genes and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.

Which types of the osteogenesis imperfecta are most common?

Osteogenesis type I is the most common and usually the mildest form of OI. In most people, it is characterized by multiple bone fractures, usually occurring during childhood through puberty.

What causes blue sclera in osteogenesis imperfecta?

Blue sclera is the most commonly known ocular sign for osteogenesis imperfecta and it is caused by thin scleral collagen allowing the underlying darker choroid vasculature to be seen. Patients with OI have shown a reduction in thickness of the corneal and scleral collagen fibers which can result in low ocular rigidity.

What are the different types of OI?

What are the types of osteogenesis imperfecta?
  • Type I: This is the mildest and most common form of OI. Type I leads to broken bones (bone fractures) or muscle weakness. …
  • Type II: Babies born with Type II often can’t breathe and die young. …
  • Type III: Babies often have broken bones at birth. …
  • Type IV: Bones may break easily.

What causes osteogenesis imperfecta Type 2?

OI type IIA is caused by mutations of the COL1A1 and COL1A2 genes (17q21. 31-q22 and 7q22. 1 respectively) and transmission is autosomal dominant . Type IIB can be autosomal dominant and also caused by mutations of the COL1A1 and COL1A2 genes (17q21.

What are the 2 types of osteogenesis?

Type I (also known as classic non-deforming osteogenesis imperfecta with blue sclerae) is the mildest form of osteogenesis imperfecta. Type II (also known as perinatally lethal osteogenesis imperfecta) is the most severe.

What type of mutation is osteogenesis imperfecta?

About 80%–90% of OI cases are caused by autosomal dominant mutations in the type 1 collagen genes, COL1A1 and COL1A2. Mutations in one or the other of these genes cause the body to make either abnormally formed collagen or too little collagen.

What disease does Adam King have?

The youngster from Killeagh, Co Cork, has a brittle bone condition called osteogenesis imperfecta. This is a rare, life-long genetic condition of bone and connective tissue. The organisers of the award have said Adam is being honoured because he inspired the nation at a time of great uncertainty and difficulty.

What is Dentinogenesis imperfecta?

Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss.

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 disease-associated mutation is enough to cause the disease. This is in contrast to a recessive disorder, where two copies of the mutation are needed to cause the disease.

What is the epidemiology of osteogenesis imperfecta?

Osteogenesis imperfecta is a rare disease occurring in 1 in 15,000 to 20,000 births. [4] The population frequencies of type I OI have been reported to range between 2.35 to 4.7 in 100000 worldwide. Reports of the incidence of type II OI range between 1 in 40,000 to 1.4 in 100000 live births.

What organs are affected by osteogenesis imperfecta?

In more severe forms of osteogenesis imperfecta, there may be bone deformities, poor lung development and lung problems, a barrel-shaped chest, poor muscle development in the arms and legs. Osteogenesis imperfecta is caused by a faulty gene that affects the body’s ability to produce collagen.

What is the difference between chromosomes and autosomes?

An autosome is any of the numbered chromosomes, as opposed to the sex chromosomes. Humans have 22 pairs of autosomes and one pair of relationship chromosomes (the X and Y). Autosomes are numbered roughly in relation to their sizes.

Is PP genotype or phenotype?

There are three available genotypes, PP (homozygous dominant ), Pp (heterozygous), and pp (homozygous recessive). All three have different genotypes but the first two have the same phenotype (purple) as distinct from the third (white).

What is ax gene?

X-linked is a trait where a gene is located on the X chromosome. Humans and other mammals have two relationship chromosomes, the X and the Y. In an X-linked or relationship linked disease, it is usually males that are affected because they have a single copy of the X chromosome that carries the mutation.

What is the difference between trisomy and monosomy?

Specifically, a trisomy is when a person has three of a particular chromosome, instead of the usual two. A monosomy is when they just have one chromosome instead of the usual two.

What is Nondisjunction?

Nondisjunction is the failure of the chromosomes to separate, which produces daughter cells with abnormal numbers of chromosomes. [