How is Bardet-Biedl Syndrome Inherited?
How is Bardet-Biedl Syndrome Inherited? Explaining the Genetics of BBS Bardet-Biedl Syndrome (BBS) is a genetic disorder, meaning it is caused by changes in a person’s DNA. Understanding how BBS is inherited can help families make informed decisions, recognize potential risks, and consider genetic counseling. Autosomal Recessive Inheritance BBS follows a pattern called autosomal recessive inheritance . This means: A person must inherit two copies of the faulty gene—one from each parent—to develop the condition. Parents who carry only one copy of the faulty gene typically show no symptoms. These individuals are known as carriers . When both parents are carriers: There is a 25% chance the child will inherit BBS (two faulty copies). There is a 50% chance the child will be a carrier (one faulty copy). There is a 25% chance the child will inherit two working copies of the gene and not be a carrier or have the disease. Many Genes Can Be Involved BBS is genetically complex. Researchers have identified over 20 different genes that can cause BBS when mutated. These genes are involved in how c