Short Communication - Detection of L1 (CAM) mutations in X-linked mental retardation: A study from Andhra Pradesh, India

BACKGROUND : Mental health is an essential ingredient in the quality of life. Recent studies carried out in countries like Germany, USA, France, England and Belgium have provided evidence for the involvement of L1 (CAM) mutations in various X-linked mental retardation syndromes. L1 CAM is a neural c...

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Bibliographic Details
Published in:Indian journal of human genetics 2006-10, Vol.12 (2)
Main Author: Jharna P, Hemabindu L, Siva Prasad S, Swarna M, Sujatha M, Rani PUsha, Reddy PP
Format: Article
Language:English
Subjects:
L1 CAM mutation, MASA, X-linked mental retardation syndromes
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Summary:BACKGROUND : Mental health is an essential ingredient in the quality of life. Recent studies carried out in countries like Germany, USA, France, England and Belgium have provided evidence for the involvement of L1 (CAM) mutations in various X-linked mental retardation syndromes. L1 CAM is a neural cell adhesion molecule belonging to the superfamily of the immunoglobulins and is critical for proper CNS development in humans. AIM: This study was aimed to screen idiopathic mental retardation cases for L1 CAM mutations. MATERIALS AND METHODS : In this study, we screened 15 cases with mental retardation. Genomic DNA from the patients and control subjects was analyzed by polymerase chain reaction using specific primers. RESULTS : In 2 out of 15 patients, mutation was detected between exon 26 and 27. CONCLUSION : It is worthwhile to screen idiopathic mental retardation cases for L1 CAM mutations to reduce genetic morbidity in the population by offering genetic counseling and prenatal diagnosis.
ISSN:0971-6866