Prabhas Prasun Giri, Sukanta Bhattyacharya, Apurba Ghosh.
LMNA Gene Mutation in Hutchinson Gilford Progeria Syndrome (HGPS).
Pak Paed J Jan ;38(2):126-8.

Hutchinson-Gilford Progeria Syndrome (HGPS;OMIM 176670) is an extremely rare genetic disorder displaying features reminiscent of premature senescence1-3. Our index case is a 4 year old girl born of apparently normal nonconsanguinous parents presenting with clinical features suggestive of Hutchinson-Gilford Progeria Syndrome (HGPS). Along with parents and elder brother she was investigated for genetic mutation analysis. The analysis revealed heterozygous LMNA mutation in exon 11 [c.1824C> T (p.Gly608=)] suggestive of classical form of progeria in the girl. No mutation was found in other family members.

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