Get access

A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome

Authors

  • Anne Debost-Legrand,

    1. Génétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, F-63000, France
    Search for more papers by this author
  • Eleonore Eymard-Pierre,

    1. Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, F-63000, France
    2. ERTICa, EA 4677, Univ Clermont1, UFR Médecine, F-63000, France
    Search for more papers by this author
  • Céline Pebrel-Richard,

    1. Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, F-63000, France
    2. ERTICa, EA 4677, Univ Clermont1, UFR Médecine, F-63000, France
    Search for more papers by this author
  • Laetitia Gouas,

    1. Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, F-63000, France
    2. ERTICa, EA 4677, Univ Clermont1, UFR Médecine, F-63000, France
    Search for more papers by this author
  • Carole Goumy,

    1. Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, F-63000, France
    2. ERTICa, EA 4677, Univ Clermont1, UFR Médecine, F-63000, France
    Search for more papers by this author
  • Michel Giollant,

    1. Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, F-63000, France
    2. ERTICa, EA 4677, Univ Clermont1, UFR Médecine, F-63000, France
    Search for more papers by this author
  • Wiem Ayed,

    1. Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, F-63000, France
    2. ERTICa, EA 4677, Univ Clermont1, UFR Médecine, F-63000, France
    Search for more papers by this author
  • Andreï Tchirkov,

    1. Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, F-63000, France
    2. ERTICa, EA 4677, Univ Clermont1, UFR Médecine, F-63000, France
    Search for more papers by this author
  • Christine Francannet,

    1. Génétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, F-63000, France
    Search for more papers by this author
  • Philippe Vago

    Corresponding author
    1. Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, F-63000, France
    2. ERTICa, EA 4677, Univ Clermont1, UFR Médecine, F-63000, France
    • Service de cytogénétique médicale, CHU Estaing, F-63 000 Clermont-Ferrand, France.
    Search for more papers by this author

  • How to Cite this Article: Debost-Legrand A, Eymard-Pierre E, Pebrel-Richard C, Gouas L, Goumy C, Giollant M, Ayed W, Tchirkov A, Francannet C, Vago P. 2012. A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome. Am J Med Genet Part A 161A:162–165.

Abstract

Microdeletions of 8q21.3–8q22.1 have been identified in all patients with Nablus mask-like facial syndrome (NMLFS). A recent report of a patient without this specific phenotype presented a 1.6 Mb deletion in this region that partially overlapped with previously reported 8q21.3 microdeletions, thus restricting critical region for this syndrome. We report on another case of an 8q21.3 deletion revealed by array comparative genome hybridization (aCGH) in a 4-year-old child with global developmental delay, autism, microcephaly, but without Nablus phenotype. The size of the interstitial deletion was estimated to span 5.2 Mb. By combining the data from previous reports on 8q21.3–8q22.1 deletions and our case, we were able to narrow the critical region of Nablus syndrome to 0.5 Mb. The deleted region includes FAM92A1, which seems to be a potential candidate gene in NMLFS. © 2012 Wiley Periodicals, Inc.

Ancillary