Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

Björn Menten, Karen Buysse, Farah Zahir, Jan Hellemans, Sara J. Hamilton, Teresa Costa, Carrie Fagerstrom, George Anadiotis, Daniel Kingsbury, Barbara C. McGillivray, Marco A. Marra, Jan M. Friedman, Frank Speleman, Geert Mortier

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Abstract

This report presents the detection of a Heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild mental retardation, failure to thrive in infancy, proportionate short stature and osteopoikilosis as the most characteristic features. In each case, this interstitial deletion was found using molecular karyotyping. The deletion occurred as a de novo event and varied between 3.44 and 6 megabases (Mb) in size with a 3.44 Mb common deleted region. The deleted interval was not flanked by low-copy repeats or segmental duplications. It contains 13 RefSeq genes, including LEMD3, which was previously shown to be the causal gene for osteopoikilosis. The observation of osteopoikilosis lesions should facilitate recognition of this new microdeletion syndrome among children with failure to thrive, short stature and learning disabilities.

Original languageEnglish
Pages (from-to)264-268
Number of pages5
JournalJournal of Medical Genetics
Volume44
Issue number4
DOIs
Publication statusPublished - Apr 2007
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Menten, B., Buysse, K., Zahir, F., Hellemans, J., Hamilton, S. J., Costa, T., Fagerstrom, C., Anadiotis, G., Kingsbury, D., McGillivray, B. C., Marra, M. A., Friedman, J. M., Speleman, F., & Mortier, G. (2007). Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14. Journal of Medical Genetics, 44(4), 264-268. https://doi.org/10.1136/jmg.2006.047860