Open AccessRett syndrome molecular diagnosis and implications in genetic counseling
Author(s) -
Mehrdad Noruzinia,
MT Akbari,
Mohammad Ghofrani,
H Sheikhha
Publication year - 2007
Publication title -
indian journal of human genetics
Language(s) - English
Resource type - Journals
eISSN - 0971-6866
pISSN - 1998-362X
DOI - 10.4103/0971-6866.38987
Subject(s) - rett syndrome , genetic counseling , mecp2 , genetics , mutation , disease , chromosome , genetic testing , genetic disorder , medicine , gene , bioinformatics , pediatrics , biology , pathology , phenotype
Rett syndrome is a rare genetic X-linked dominant disorder. This syndrome is the most frequent cause of mental retardation in girls. In the classical form of the disease, the presenting signs and the course of development are characteristic. However clinical diagnosis can be very difficult when the expression is not in the classical form. Mutations in MeCP2 are responsible for 80% of cases. When MeCP2 mutation is found in an index case, genetic counseling is similar to that in other X-linked dominant genetic diseases. However, mutations in this gene can cause a spectrum of atypical forms. On the other hand, other genetic conditions like translocations, sex chromosome numerical anomalies, and mutations in other genes can complicate genetic counseling in this syndrome. We present the first case of molecular diagnosis of Rett syndrome in Iran and discuss the recent developments in its genetic counseling.