Identification and Analysis of L1 Syndrome Features in Patients with Mental Retardation Srinivasamurthy Madhan1, Kakanahalli Nagaraj1,* 1Research Scholar, Molecular Genetics Laboratory Department of Applied Zoology, Kuvempu University, Jnanasahyadri, Shankaraghatta, Shivamogga, Karnataka, India 2Professor, Molecular Genetics Laboratory Department of Applied Zoology, Kuvempu University, Jnanasahyadri, Shankaraghatta, Shivamogga, Karnataka, India *Corresponding Author: Dr. Nagaraj K. Professor, Molecular Genetics Laboratory, Dept. of Applied Zoology, Kuvempu University, Jnanasahyadri, Shankaraghatta, Shivamogga, Karnataka, India-577451. Ph: 9620485338, E-mail: knagarajv@gmail.com
Online published on 13 November, 2019. Abstract Background L1 syndrome is an X-linked disorder with a spectrum of phenotypic features such as mental retardation, X-linked Hydrocephalus, Spastic paraplegia, Aphasia, and Adducted thumbs. The phenotypes are overlapping and Mental retardation is the most common symptom among individuals with the L1 syndrome. The L1 syndrome is caused by the mutations in the L1CAM gene and L1CAM gene is involved in the development of the nervous system. Aims The objective of the present study was to identify the L1 syndrome features in Mental retardation, and to assess the correlation between individual L1 syndrome features with mental retardation. Method We first identified the mentally retarded patients in various clinics, hospitals, and schools run by NGOs in Karnataka. Segregated the patient's data based on the number of L1 syndrome features. And a detailed family history of the patients was collected and recorded. Results It was found that 77.39% of the MR patients have shared one or more clinical features of the L1 syndrome. Among them, 31.87% of patients have aphasia, 23.50% of patients have spastic paraplegia, 8.36% of patients have adducted thumb. The mean age at the referral of the patients was 14.53±5.53. Interpretation & conclusions This data revealed the co-occurrence of L1 syndrome features with Mental retardation. And the percentage of L1 syndrome features like Hydrocephalus, Aphasia, Spasticity, Adducted thumb, with mental retardation, is varied. Top Keywords Hydrocephalus, Aphasia, Spastic Paraplegia, Mental retardation. Top |