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
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.
- 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