﻿ Rothmund-Thomson Syndrome Symptoms, Causes, Treatment - How common is Rothmund-Thomson syndrome? - MedicineNet

Rothmund-Thomson Syndrome (cont.)

How common is Rothmund-Thomson syndrome?


What genes are related to Rothmund-Thomson syndrome?

Mutations in the RECQL4 gene cause about two-thirds of all cases of Rothmund-Thomson syndrome. This gene provides instructions for making a protein whose function is not well understood, although researchers believe that it helps stabilize genetic information in the body's cells. This protein probably also plays a role in copying (replicating) and repairing DNA.



In some cases, chromosomal abnormalities have been identified in people with Rothmund-Thomson syndrome. These abnormalities include extra or missing genetic material, usually from chromosome 7 or chromosome 8, in some of an affected person's cells. Researchers believe that these chromosomal changes are related to the overall instability of an affected person's genetic information.

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