The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: Report on two patients and review of the literature

Annick Raas-Rothschild, Trijnie Dijkhuizen, Birgit Sikkema-Raddatz, Marion Werner, Judith Dagan, Devorah Abeliovich, Israela Lerer

Research output: Contribution to journalArticlepeer-review

Abstract

Nablus mask-like facial syndrome (NMFLS) is a rare microdeletion syndrome with a mask-like facial appearance as the most characteristic feature. In 2000, Teebi, was the first to report on a 4 years old boy affected with NMFLS. Since then two additional patients have been reported. Three years later, with the development of the array CGH technology, Shieh et al., elucidated the etiology of NMFLS by showing that the two patients studied share a ∼4 Mb microdeletion in the long arm of chromosome 8 (q21.3-q22.1). Here we report on two NMFLS patients among which the first patient described by Teebi in 2000, and present newly described clinical findings including the common happy behaviour of the children. Array CGH analysis of these two patients permitted to reveal a deletion in the same region, 8q21.3-q22.1. Combining the available literature and our data, we were able to narrow the common deleted region to 2.78 Mb (93.56-96.34 Mb) in 8q22.1. Direct relations between the clinical findings with (one of) the genes in the critical region have to await further studies on NFMLS patients with overlapping or smaller deletions.

Original languageEnglish
Pages (from-to)140-144
Number of pages5
JournalEuropean Journal of Medical Genetics
Volume52
Issue number2-3
DOIs
StatePublished - Mar 2009
Externally publishedYes

Keywords

  • Blepharophimosis
  • Chromosome 8q22.1
  • Contractures
  • Happy disposition
  • Microdeletion
  • Nablus mask-like facial syndrome
  • Telecanthus

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