title: Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.
abstract: Nablus mask-like facial syndrome (NMLFS) has many distinctive phenotypic features, particularly tight glistening skin with reduced facial expression, blepharophimosis, telecanthus, bulky nasal tip, abnormal external ear architecture, upswept frontal hairline, and sparse eyebrows. Over the last few years, several individuals with NMLFS have been reported to have a microdeletion of 8q21.3q22.1, demonstrated by microarray analysis. The minimal overlapping region is 93.98-96.22 Mb (hg19). Here we present clinical and microarray data from five singletons and two mother-child pairs who have heterozygous deletions significantly overlapping the region associated with NMLFS. Notably, while one mother and child were said to have mild tightening of facial skin, none of these individuals exhibited reduced facial expression or the classical facial phenotype of NMLFS. These findings indicate that deletion of the 8q21.3q22.1 region is necessary but not sufficient for development of the NMLFS. We discuss possible genetic mechanisms underlying the complex pattern of inheritance for this condition.
authors: Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada. allanson@cheo.on.ca
authors: Judith
authors: J
authors: Allanson
authors: Amanda
authors: A
authors: Smith
authors: Heather
authors: H
authors: Hare
authors: Beate
authors: B
authors: Albrecht
authors: Emilia
authors: E
authors: Bijlsma
authors: Bruno
authors: B
authors: Dallapiccola
authors: Emilio
authors: E
authors: Donti
authors: David
authors: D
authors: Fitzpatrick
authors: Bertrand
authors: B
authors: Isidor
authors: Katherine
authors: K
authors: Lachlan
authors: Cedric
authors: C
authors: Le Caignec
authors: Paolo
authors: P
authors: Prontera
authors: Annick
authors: A
authors: Raas-Rothschild
authors: Daniela
authors: D
authors: Rogaia
authors: Bregje
authors: B
authors: van Bon
authors: Swaroop
authors: S
authors: Aradhya
authors: Susan F
authors: SF
authors: Crocker
authors: Olga
authors: O
authors: Jarinova
authors: Jean
authors: J
authors: McGowan-Jordan
authors: Kym
authors: K
authors: Boycott
authors: Dennis
authors: D
authors: Bulman
authors: Christina Ringmann
authors: CR
authors: Fagerberg
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D016569:Blepharophimosis / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010641:Phenotype