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

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Author(s): MUNSHI A. | SATYANARAYANA U. | BABU M.S. | VASUNDHARA A. | HARISCHANDRA Y.V. | KRISHNA A. | KUMARI J.S. | JYOTHY A.

Journal: International Journal of Genetics
ISSN 0975-2862

Volume: 5;
Issue: 1;
Start page: 116;
Date: 2013;
Original page

Keywords: Hutchinson-Gilford progeria syndrome | autosomal dominant disorder | LMNA gene | B4GALT1 gene

ABSTRACT
Background: 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 we investigated two HGPS siblings originating from South Indian region of Andhra Pradesh. Methods: 50 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. Results: A novel de novo point mutation C1699T was observed in exon 10 of LMNA gene in proband as well as the affected younger sibling. However, neither the parents nor the controls had this mutation. Conclusions: The observation of heterozygous de novo LMNA mutation C1699T in HGPS patients in exon 10, supports the prevailing hypothesis that HGPS essentially represents a sporadic autosomal dominant disorder.

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