Affects 1 in 100,000 individuals.
Autosomal dominant inheritance
Most cases result from new mutations in the gene
Mutations in the TBX5 gene cause Holt-Oram syndrome. This gene provides instructions for making a protein that plays a role in the development of the heart and upper limbs before birth
In particular, this gene appears to be important for the process that divides the developing heart into four chambers (cardiac septation).
People with Holt-Oram syndrome have abnormally developed bones in their upper limbs. At least one abnormality in the bones of the wrist (carpal bones) is present in affected individuals. Often, these wrist bone abnormalities can be detected only by X-ray. Individuals with Holt-Oram syndrome may have additional bone abnormalities including a missing thumb, a long thumb that looks like a finger, partial or complete absence of bones in the forearm, an underdeveloped bone of the upper arm, and abnormalities of the collar bone or shoulder blades. These skeletal abnormalities may affect one or both of the upper limbs.
About 75 percent of individuals with Holt-Oram syndrome have heart (cardiac) problems, which can be life-threatening.
The most common problem is a defect in the muscular wall (septum) such as
Atrial septal defect
Ventricular septal defect
They also have cardiac conduction disease
Autosomal dominant inheritance
Most cases result from new mutations in the gene
Mutations in the TBX5 gene cause Holt-Oram syndrome. This gene provides instructions for making a protein that plays a role in the development of the heart and upper limbs before birth
In particular, this gene appears to be important for the process that divides the developing heart into four chambers (cardiac septation).
People with Holt-Oram syndrome have abnormally developed bones in their upper limbs. At least one abnormality in the bones of the wrist (carpal bones) is present in affected individuals. Often, these wrist bone abnormalities can be detected only by X-ray. Individuals with Holt-Oram syndrome may have additional bone abnormalities including a missing thumb, a long thumb that looks like a finger, partial or complete absence of bones in the forearm, an underdeveloped bone of the upper arm, and abnormalities of the collar bone or shoulder blades. These skeletal abnormalities may affect one or both of the upper limbs.
About 75 percent of individuals with Holt-Oram syndrome have heart (cardiac) problems, which can be life-threatening.
The most common problem is a defect in the muscular wall (septum) such as
Atrial septal defect
Ventricular septal defect
They also have cardiac conduction disease
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