Autosomal recessive disorders
Objectives- Define autosomal recessive
- Describe the characteristics of a pedigree of an autosomal recessive disorder
- List 2 examples of autosomal recessive disorders
- If autosomal dominant disorders tend to be structural problems, how would autosomal recessive disorders be characterized?
Patients with autosomal recessive disorders are homozygous for the affected gene. Both parents, therefore must be heterozygous, or carriers, if there is no phenotypic evidence of the disorder. The risk of being affected with an autosomal recessive disorder with 2 heterozygous parents is 1: 4. Many autosomal recessive disorders produce inborn errors of metabolism, resulting from an enzymatic deficiency. Lysozomal storage diseases, which include the mucopolysaccharoidoses and Gaucher's disease are autosomal recessive disorders. Limb-girdle muscular dystrophy and Frederich's ataxia families demonstrate autosomal recessive patterns. Another important non-orthopaedic condition is cystic fibrosis. Consanguinity increases the chances of offspring with autosomal recessive disorders.
References
- Dietz FR, Murray JC. Update on the genetic basis of disorders with orthopaedic manifestations. In: Buckwalter JA, Einhorn TA, editors. Simon, S. R. Orthopaedic Basic Science. Biology and Biomechanics of the Musculoskeletal System: American Academy of Orthpaeic Surgeons; 2000.
- Horan F, Beighton P. Orthopaedic problems in inherited musculoskeletal disorders. Berlin: Springer-Verlag; 1982.
- Jorde LB, Carey JC, White RL. Medical Genetics. 2 ed. St. Louis: Mosby; 1999.
May 16-19, 2012 in Denver, CO
