How common is it to be a carrier of Smith Lemli Opitz syndrome?
Smith–Lemli–Opitz syndrome carrier frequency is highest in Ashkenazi Jews (1 in 43) and Northern Europeans (1 in 54). Comparing predicted birth incidence with that observed in published literature suggests that approximately 42% to 88% of affected conceptuses experience prenatal demise.
Is Smith Lemli Opitz hereditary?
SLOS is caused by a deficiency in the enzyme 7-dehydrocholesterol reductase that results in an abnormality in cholesterol metabolism. SLOS is inherited as an autosomal recessive genetic disorder.
How many people carry the SLOS gene?
SLOS affects an estimated 1 in 20,000 to 1 in 60,000 people. This disease is more common in those of European ancestry, especially in people from Slovakia and the Czech Republic. SLOS syndrome is rare among people of African and Asian descent.
How long do people with Smith Lemli Opitz syndrome live for?
SLOS is a condition that is variable in its symptoms and life expectancy. Sadly, about one quarter of affected individuals will die in early childhood, whilst others may live into adulthood….Quick facts about Smith-Lemli-Opitz syndrome.
| Inheritance: | Autosomal Recessive |
| Alternative Names: | SLOS |
What chromosome is Smith-Lemli-Opitz syndrome found on?
Phenotype-Gene Relationships
| Location | Phenotype | Inheritance |
|---|---|---|
| 11q13.4 | Smith-Lemli-Opitz syndrome | AR |
What is the inheritance pattern of Bloom syndrome?
Bloom syndrome is inherited in an autosomal recessive pattern. This means that there is a mutation of both copies of the BLM gene in people with Bloom syndrome; and each parent carries one mutant copy and one normal copy. The causative gene has been mapped to chromosomal location 15q26.
What is Opitz G syndrome?
Opitz G/BBB syndrome is an inherited condition that affects several structures along the midline of the body. The most common features are wide-spaced eyes and defects of the larynx, trachea, and/or esophagus causing breathing problems and difficulty swallowing.
What is Smith syndrome?
Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems.
How is the family of a person with Bloom syndrome affected?
This means that to be affected with Bloom syndrome, a person receives one mutated gene copy from his or her mother and one mutated gene copy from his or her father. The risk for two carrier parents to both pass down the disease-causing gene and therefore to have an affected child is 25% with each pregnancy.
What is Li Fraumeni syndrome?
Li-Fraumeni syndrome (LFS) is an inherited familial predisposition to a wide range of certain, often rare, cancers. This is due to a change (mutation) in a tumor suppressor gene known as TP53.
What causes Opitz syndrome?
Smith-Lemli-Opitz syndrome is caused by mutations in the DHCR7 gene, which provides instructions for making an enzyme called 7-dehydrocholesterol reductase. This enzyme is responsible for the final step in the production of cholesterol.
What causes Opitz Frias syndrome?
X-linked Opitz G/BBB syndrome is caused by mutations in the MID1 gene. The MID1 gene provides instructions for making a protein called midline-1. This protein attaches (binds) to microtubules, which are rigid, hollow fibers that make up the cell’s structural framework (the cytoskeleton ).
How is Smith Lemli Opitz syndrome a carrier?
Smith-Lemli-Opitz syndrome is known as an autosomal recessive condition. For autosomal recessive conditions, if a person has a variation in one copy of their gene, they are a carrier. This means that they are healthy because they also have a working copy of the gene.
How does egg yolk affect Smith Lemli Opitz syndrome?
J Med Genet 2000;37:321-335. Linck LM, Lin DS, Flavell D, et al. Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome. Am J Med Genet 2000;93:363-365.
Can a person with Smith Lemli Opitz live a normal life?
A person with Smith-Lemli-Opitz syndrome who has appropriate medical care and follows a proper diet has the potential for a normal life expectancy. Independent living is unlikely, however, due to the presence of intellectual disability.