Genetics of Alström Syndrome

Alstrom Syndrome is a genetic disorder that is termed ‘autosomal recessive’.   It is caused by alterations (or mutations) in the gene ALMS1 that cause it not to function properly.  It is inherited by both males and females with equal probability.

Almost all of our genes come in pairs, one inherited from each of our parents. Most parents are not aware that they carry an alteration in ALMS1 gene until the birth of an affected child.  Carriers of Alstrom Syndrome have one copy of the altered or mutated gene, but do not have any visible symptoms of Alstrom Syndrome, so often unknowingly passes it to their offspring.  The only consequence of being a carrier is the possibility of transmitting Alstrom Syndrome to a child .A recessive condition like Alstrom Syndrome results when a child inherits two copies of the altered ALMS1, one from each parent. Both parents must be carriers in order for any of their children to be affected.   Couples in which the man and the woman are each carriers of an alteration inALMS1, have a 25% chance with each pregnancy of conceiving a child with Alstrom Syndrome. There is a 50% chance of producing a child who is a carrier like the parents and a 25% chance that the child will be neither a carrier nor affected. These numbers are illustrated in the following chart:

Autosomal recessive inheritance



1. Genetics Home Reference – patterns of inheritance.

2. Marshall JD, Maffei P, Collin GB, Naggert JK (2011): Alstrom Syndrome: Genetics and Clinical Overview.  Curr Genom 12(3):225-235.