How is Albright's hereditary osteodystrophy (AHO) inherited?
This condition is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. There is nothing that either parent can do, before or during a pregnancy, to cause a child to have this condition. In some cases, an affected person inherits the mutation from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation.When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.
People normally inherit one copy of each gene from their mother and one copy from their father. For most genes, both copies are active, or 'turned on,' in all cells. For a small subset of genes, however, only one of the two copies is active. For some of these genes, only the copy inherited from a person's mother (the maternal copy) is active, while for other genes, only the copy inherited from a person's father (the paternal copy) is active. These differences in gene activation based on the gene's parent of origin are caused by a phenomenon called genomic imprinting.Hormone resistance and, in particular resistance to parathyroid hormone (PTH), only occurs when the gene mutation is inherited from the mother (a condition called pseudohypoparathyroidism type 1a (PHP1a)).
Last updated: 1/3/2018
What is the chance that a woman with Albright's hereditary osteodystrophy (AHO) will have a child with the condition?
When a mutation that causes AHO is inherited from a person's mother, the affected individual will usually have AHO accompanied by a resistance to multiple hormones (a condition called pseudohypoparathyroidism type 1A, or PHP1A).Thus, a woman with AHO has a 50% chance in each pregnancy of having a child with PHP1A and AHO.
Last updated: 10/17/2012
What is the chance that a man with Albright's hereditary osteodystrophy (AHO) will have a child with this condition?
A paternally-inherited mutation can result in AHO without endocrine problems; this form of the condition is also called pseudopseudohypoparathyroidism (PPHP).Thus, a man with AHO has a 50% chance in each pregnancy of having a child with AHO without hormone resistance (pseudopseudohypoparathyroidism).
Last updated: 10/17/2012
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