Molecular analysis of ABCD1 gene in Indian patients with X-linked Adrenoleukodystrophy

► First report from India on mutational spectrum of X-ALD patients. ► In twenty X-ALD patients, six reported and four novel mutations were found. ► Prenatal diagnosis done in one family showed normal result. ► No genotype-phenotype correlation was found. ► The study helps in diagnosis and genetic counseling of Indian X-ALD patients.