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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 12, No. 2, 2006, pp. 82-85
Bioline Code: hg06014
Full paper language: English
Document type: Research Article
Document available free of charge

Indian Journal of Human Genetics, Vol. 12, No. 2, 2006, pp. 82-85

 en Short Communication - Detection of L1 (CAM) mutations in X-linked mental retardation: A study from Andhra Pradesh, India
Jharna P, Hemabindu L, Siva Prasad S, Swarna M, Sujatha M, Rani PUsha, Reddy PP


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.

L1 CAM mutation, MASA, X-linked mental retardation syndromes

© Copyright 2006 Indian Journal of Human Genetics.
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