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: Judith Allanson, Amanda Smith, Heather Hare, Beate Albrecht, Emilia Bijlsma, Bruno Dallapiccola, Emilio Donti, David Fitzpatrick, Bertrand Isidor, Katherine Lachlan, Cedric Le Caignec, Paolo Prontera, Annick Raas-Rothschild, Daniela Rogaia, Bregje van Bon, Swaroop Aradhya, Susan F Crocker, Olga Jarinova, Jean McGowan-Jordan, Kym Boycott, Dennis Bulman, Christina Ringmann Fagerberg
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 158A Issue 9 Pg. 2091-9 (Sep 2012) ISSN: 1552-4833 [Electronic] United States
• PMID: 22821852 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2012 Wiley Periodicals, Inc.

Topics

• Abnormalities, Multiple (genetics)
• Adolescent
• Adult
• Blepharophimosis (genetics)
• Child, Preschool
• Chromosome Deletion
• Chromosomes, Human, Pair 8
• Craniofacial Abnormalities (genetics)
• Female
• Humans
• Male
• Phenotype