Premium
Nablus mask‐like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype
Author(s) -
Allanson Judith,
Smith Amanda,
Hare Heather,
Albrecht Beate,
Bijlsma Emilia,
Dallapiccola Bruno,
Donti Emilio,
Fitzpatrick David,
Isidor Bertrand,
Lachlan Katherine,
Le Caignec Cedric,
Prontera Paolo,
RaasRothschild Annick,
Rogaia Daniela,
van Bon Bregje,
Aradhya Swaroop,
Crocker Susan F.,
Jarinova Olga,
McGowanJordan Jean,
Boycott Kym,
Bulman Dennis,
Fagerberg Christina Ringmann
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35446
Subject(s) - phenotype , blepharophimosis , genetics , microarray , comparative genomic hybridization , facial expression , biology , chromosome , gene , computer science , gene expression , artificial intelligence , ptosis , pharmacology
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. © 2012 Wiley Periodicals, Inc.