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First case report of Penttinen syndrome from India.

Bhawana AggarwalAlec R E CorreaNeerja GuptaManisha JanaMadhulika Kabra
Published in: American journal of medical genetics. Part A (2021)
Penttinen type of premature aging syndrome is an extremely rare progeroid disorder, caused by activating variants in the receptor tyrosine kinase domain of the PDGFRB gene. Only eight individuals have been previously reported worldwide, with a consistent phenotype of prematurely aged appearance, lipoatrophy, hypertrophic skin lesions, proptosis, malar hypoplasia, and marked acro-osteolysis. We report the first patient of Penttinen syndrome from India, with novel radiographic findings of terminal phalangeal tufting, thereby expanding the phenotypic spectrum of Penttinen syndrome.
Keyphrases
  • case report
  • tyrosine kinase
  • copy number
  • signaling pathway
  • dna methylation
  • genome wide
  • gene expression
  • wound healing
  • binding protein
  • genome wide identification