title: A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome.
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.
authors.affiliation: Génétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Debost-Legrand
authors.forename: Eleonore
authors.initials: E
authors.lastname: Eymard-Pierre
authors.forename: Céline
authors.initials: C
authors.lastname: Pebrel-Richard
authors.forename: Laetitia
authors.initials: L
authors.lastname: Gouas
authors.forename: Carole
authors.initials: C
authors.lastname: Goumy
authors.forename: Michel
authors.initials: M
authors.lastname: Giollant
authors.forename: Wiem
authors.initials: W
authors.lastname: Ayed
authors.forename: Andreï
authors.initials: A
authors.lastname: Tchirkov
authors.forename: Christine
authors.initials: C
authors.lastname: Francannet
authors.forename: Philippe
authors.initials: P
authors.lastname: Vago
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D001321:Autistic Disorder / Q000235:genetics; D016569:Blepharophimosis / Q000175:diagnosis* / Q000235:genetics*; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D055028:Comparative Genomic Hybridization / Q000379:methods; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D006801:Humans; D051550:I-kappa B Kinase / Q000235:genetics / Q000378:metabolism; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007223:Infant; D059785:Karyotype; D008297:Male; D008831:Microcephaly / Q000235:genetics; D010641:Phenotype
chemical_list: C496559:CHUK protein, human; D051550:I-kappa B Kinase