Progeria HGPS

S.B. Devi Charity Home

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.

Characteristics

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.

Mr. Sekhar Chattopadhyay, General Secretary, SBDCH, takes special care of the HGPS family

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