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. Epub 2015 Jun 24.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Base Sequence
  • Bone Diseases, Developmental / diagnosis*
  • Bone Diseases, Developmental / diagnostic imaging
  • Bone Diseases, Developmental / genetics*
  • Bone Diseases, Developmental / pathology
  • Child, Preschool
  • Exons
  • Facies*
  • Gene Expression
  • Humans
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / diagnostic imaging
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Nitrogenous Group Transferases / genetics*
  • Radiography

Substances

  • Nitrogenous Group Transferases
  • phospholipid serine base exchange enzyme

Supplementary concepts

  • Lenz Majewski hyperostotic dwarfism