By Syed Akbar
Hyderabad: City geneticists have found that mutations in X
chromosomes, contributed by mother, will lead to mental retardation in children.
A joint study by L Hemabindu, PP Reddy and others from the department of
environmental toxicology, Institute of Genetics and Hospital for Genetic Diseases,
Osmania University, detected L1 CAM mutations in X-linked mental retardation. L1 CAM is a
neural cell adhesion molecule (CAM) belonging to the superfamily of the immunoglobulins and is
critical for proper central nervous system development in humans. Since mutations on X
chromosome is now linked to mental retardation, it simply means that mothers pass on the
defect to their children.
The research team screened as many as 15 cases with mental retardation
analysing genomic DNA from the patients and control subjects. The team detected mutations in
two out of 15 patients. "It is worthwhile to screen idiopathic mental retardation cases
for L1 CAM mutations to reduce genetic morbidity in the population by offering genetic counselling
and prenatal diagnosis," the study pointed out.
Mental retardation is caused by genetic and non-genetic factors. Among the
genetic factors, chromosomal anomalies and metabolic disorders were found to be causative
factors in 50 per cent of the cases with mental retardation. However in the remaining 50 per
cent of cases, the cause is not established.
Studies conducted in the field of molecular genetics and developmental
neurobiology revealed that some types of brain malformations and mental retardation are due to
mutations in L1 gene. Cell adhesion molecule (L1CAM) plays a key role in the development of
nervous system. The gene encoding L1 is located on the X chromosome.
Patients suspected for mental retardation from different hospitals and clinics were referred to the Institute of
Genetics and Hospital for Genetic Diseases for confirmation. After initial examination, unknown
cases of mental retardation were included for the study. Fifteen children in the age group
of 6 months to 15 years were selected. For comparison, an equal number of healthy and normal
children in the same age group and socio-economic status were selected as controls.
The patients and the healthy subjects were clinically examined and
information on their age, sex, physical features, pedigree and health status was recorded in a
standard questionnaire. Psychological assessment was performed using standard IQ assessment tests.
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