2. Academic Validation
  3. Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene

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

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.

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