A NOVEL LMNA MUTATION IN TWO SOUTH INDIAN SIBLINGS WITH HUTCHINSON-GILFORD PROGERIA SYNDROME

Hutchinson-Gilford progeria syndrome is a rare genetic disorder characterized by dramatic premature senescence. Progeria is almost always caused by de novo point mutations in the LMNA gene that activates a cryptic splice donor site, producing a truncated mutant protein termed ''progerin.'' A previous study has also reported an association of 594 C>T mutation in B4GALT1 gene with HGPS. In this study, the authors investigated two HGPS siblings originating from South Indian region of Andhra Pradesh. Fifty healthy controls from the same ethnic group were also included in the study. Clinical characteristics of the affected children were noted down. All the exons of LMNA gene were amplified by PCR and the mutations detected by sequencing the PCR products. The 594 C>T mutation in B4GALT1 gene was also evaluated by sequencing the PCR products. The observation of heterozygous de novo LMNA mutation C1699T in HGPS patients in exon 10, supports the prevailing hy-pothesis that HGPS essentially represents a sporadic autosomal dominant disorder.