Pathophysiology
In a family with an X-linked recessive deafness syndrome (Mohr-Tranebjaerg syndrome), seven out of eight obligate carriers exhibited extremely skewed X chromosome inactivation patterns in blood DNA, suggesting a potential genetic influence on X inactivation skewing [PMID:8826445].
Clinical Presentation
Female carriers in this study demonstrated highly variable X chromosome inactivation patterns, with some showing significant skewing while others did not, indicating potential variability in clinical manifestations [PMID:8826445].
Diagnosis
Polymerase chain reaction analysis of X chromosome inactivation, particularly through methylation-dependent amplification of polymorphic repeats, can help identify carriers with skewed inactivation patterns in families with X-linked recessive syndromes [PMID:8826445].
References
1 Orstavik KH, Orstavik RE, Eiklid K, Tranebjaerg L. Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome. American journal of medical genetics 1996. link1096-8628(19960712)64:1<31::AID-AJMG4>3.0.CO;2-U)
1 papers cited of 3 indexed.