Assessment
Questionnaire

Have a symptom?
See what questions
a doctor would ask.
 
Diseases » Achondroplasia » Inheritance
 

Inheritance and Genetics of Achondroplasia

Inheritance of Achondroplasia:

Autosomal dominant diseases are usually inherited from the one parent who already has the disease. Rare cases of sporadic genetic disease with neither parent having the disease can also occur. See inheritance of autosomal dominant diseases.

Genetics of Achondroplasia:

Achondroplasia is a genetic disorder that may be inherited as an autosomal dominant trait, although most cases are due to spontaneous mutations in the mother's egg or father's sperm prior to conception.

Achondroplasia: Inheritance and Genetics Details

Inheritance properties of Achondroplasia:

  Disease inherited from: Usually inherited from one parent who has Achondroplasia; see inheritance of autosomal dominant diseases.

  Gender bias in inheritance: Male and female children are equally at risk of autosomal dominant diseases.

Inheritance Patterns

Inheritance odds for Achondroplasia:

  Overall odds of inheritance: Usually inherited from one parent who has Achondroplasia; see inheritance of autosomal dominant diseases.

  Sibling of diseased child odds of inheriting disease: Usually 50% for autosomal dominant diseases.

  Overall odds of inheriting from mother: Usually 50% for autosomal dominant diseases.

  Overall odds of inheriting from father: Usually 50% for autosomal dominant diseases.

  Mother to son inheritance odds: Usually 50% for autosomal dominant diseases.

  Father to son inheritance odds: Usually 50% for autosomal dominant diseases.

  Mother to daughter inheritance odds: Usually 50% for autosomal dominant diseases.

  Father to daughter inheritance odds: Usually 50% for autosomal dominant diseases.

  Inheritance from one diseased parent odds: Usually 50% for autosomal dominant diseases.

  Inheritance from two diseased parents odds: Usually 75% (50% disease, 25% double dominant) for autosomal dominant diseases.

Genetic Carriers

Genetic carriers of Achondroplasia:

  Carriers possible for disease?: No, not for autosomal dominant diseases.

  Odds daughter becomes genetic carrier: 0%. There are no carriers for autosomal dominant diseases.

  Odds son becomes genetic carrier: 0%. There are no carriers for autosomal dominant diseases.

Inheritance Features

Inheritance features for Achondroplasia:

  Inheritance pattern: Vertical inheritance for autosomal dominant disease.

  Sporadic form of disease possible?: Yes, only one genetic mutation is required for a sporadic version of an autosomal dominant disease.

  Double dominant form of disease possible?: Yes, double dominance is definitely applicable for autosomal dominance.

  Inheritance from one double dominant parent: Usually 100% inheritance from a double dominant form of an autosomal dominant disease.

Achondroplasia: Genetics Information

Genetics of Achondroplasia: Although this condition can be inherited in an autosomal dominant manner, 80% of cases are due to new, sporadic mutations. Mutations involve the gene encoding fibroblast growth factor receptor 3 (FGFR3), situated on chromosome 4. Most commonly, a point mutation causes the substitution of arginine for glycine (G380R) in the transmembrane region of the receptor.

There is growing evidence that mutations of FGF3R confer a "gain of function". It is proposed that the normal function of FGFR3 is to slow down the formation of bone by inhibiting the proliferation of chondrocytes, the cells that produce cartilage. The mutation increases the activity of FGFR3, severely limiting bone growth.

This theory is supported by the knock-out mouse model in which the receptor is absent, and so the negative regulation of bone formation is lost. The result is a mouse with excessively long bones and elongated vertebrae, resulting in a long tail. Achondroplastic mouse models are useful tools in developing potential treatments. (Source: Genes and Disease by the National Center for Biotechnology)

About inheritance and genetics:

Inheritance of Achondroplasia refers to whether the condition is inherited from your parents or "runs" in families. The level of inheritance of a condition depends on how important genetics are to the disease. Strongly genetic diseases are usually inherited, partially genetic diseases are sometimes inherited, and non-genetic diseases are not inherited. For general information, see Introduction to Genetics.

 

By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.

Home | Symptoms | Diseases | Diagnosis | Videos | Tools | Forum | About Us | Terms of Use | Privacy Policy | Site Map | Advertise