Neonatal Encephalopathy in Two Boys in Families With Recurrent Rett Syndrome
- 1 May 1998
- journal article
- case report
- Published by SAGE Publications in Journal of Child Neurology
- Vol. 13 (5), 229-231
- https://doi.org/10.1177/088307389801300507
Abstract
Rett syndrome (RTT) has been described in its classic form only in females. Although the majority of cases are sporadic, familial cases give valuable insight into the genetic basis and phenotypic variability of the disorder. The exclusive occurrence of classic Rett syndrome in females led to the hypothesis that the Rett syndrome locus is likely to be X-linked and mutations are lethal in hemizygous males. We identified two boys in families with recurrent Rett syndrome who had encephalopathies with neonatal onset and who may represent the phenotype of males harboring Rett syndrome muta tions. The difference in severity of disease in these males and their female relatives supports the location of Rett syndrome locus on the X-chromosome. (J Child Neurol 1998;13:229-231).Keywords
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