Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene

  • Eur J Med Genet. 2015 Aug;58(8):392-9. doi: 10.1016/j.ejmg.2015.06.002.
Parag M Tamhankar  1 ,  Lakshmi Vasudevan  2 ,  Vandana Bansal  3 ,  Shyla R Menon  2 ,  Harshavardhan M Gawde  2 ,  Aruna D'Souza  2 ,  Shiny Babu  2 ,  Shweta Kondurkar  2 ,  Rashmi Adhia  2 ,  Dhanjit Kumar Das  2
Affiliations
  • 1. Genetic Research Center, National Institute for Research in Reproductive Health, JM Street, Parel, Mumbai, India. Electronic address: [email protected].
  • 2. Genetic Research Center, National Institute for Research in Reproductive Health, JM Street, Parel, Mumbai, India.
  • 3. Nowrosjee Wadia Maternity Hospital, Parel, Mumbai, India.
PMID: 26117586 DOI: 10.1016/j.ejmg.2015.06.002
Abstract

Lenz-Majewski syndrome (LMS) is an extremely rare syndrome characterized by osteosclerosis, intellectual disability, characteristic facies and distinct craniofacial, dental, cutaneous and distal - limb anomalies. Recently, mutations in PTDSS1 gene have been identified as causative in six unrelated individuals. We report the seventh mutation proven case of LMS and provide a concise review of all known patients till date.

Keywords
Lenz-Majewski syndrome; PTDSS1.