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Progeria Hutchinson-Gilford Progeria Syndrome (HGPS)
A joint collaboration Research Project between S. B. Devi Charity
Home, Kolkata Institute of Child Health, Kolkata University Children's Hospital Basel, Switzerland
Characteristics Extremely rare genetic disorder. Display features reminiscent of premature senescence. Affected children appear normal at birth. Begin to develop characteristic syndrome, like failure to thrive, alopecia,
lipodystrophy and sceloderma-like skin changes within the first year of life.
HGPS Family
- Origin: North India (Bihar).
- Parents:First-degree cousins.
- Number of children: 8
(6 HGPS affected, 2 normal)
- Three affected children died of different reasons.
- Scientific studies have been carried on three affected
children: 6yr male, 17yr male, 19yr female and 14yr
female normal child.
Conclusion from Genetic Study
- Genome-wide linkage analysis provided molecular evidence
for autosomal recessive inheritance of HGPS.
- HGPS represents the second laminopathy where germline
mutations in the Lamin A/C gene can cause disease in both
dominant and recessive
mode of inheritance.
- No other carrier of HGPS was found through genetic study
among the 100 other residents of the same village
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Mr. Sekhar Chattopadhyay, General Secretary, SBDCH, takes special
care of the HGPS family
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