TY - JOUR
T1 - Nablus mask-like facial syndrome
T2 - Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype
AU - Allanson, Judith
AU - Smith, Amanda
AU - Hare, Heather
AU - Albrecht, Beate
AU - Bijlsma, Emilia
AU - Dallapiccola, Bruno
AU - Donti, Emilio
AU - Fitzpatrick, David
AU - Isidor, Bertrand
AU - Lachlan, Katherine
AU - Le Caignec, Cedric
AU - Prontera, Paolo
AU - Raas-Rothschild, Annick
AU - Rogaia, Daniela
AU - van Bon, Bregje
AU - Aradhya, Swaroop
AU - Crocker, Susan F.
AU - Jarinova, Olga
AU - McGowan-Jordan, Jean
AU - Boycott, Kym
AU - Bulman, Dennis
AU - Fagerberg, Christina Ringmann
PY - 2012/9
Y1 - 2012/9
N2 - 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 93.98-96.22Mb (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.
AB - 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 93.98-96.22Mb (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.
KW - Abnormal external ear architecture
KW - Blepharophimosis
KW - Bulky nasal tip
KW - Chromosome deletion
KW - Deletion 8q
KW - Nablus mask-like facial syndrome
KW - Sparse eyebrows
KW - Telecanthus
UR - http://www.scopus.com/inward/record.url?scp=84865550553&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.35446
DO - 10.1002/ajmg.a.35446
M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???
C2 - 22821852
AN - SCOPUS:84865550553
SN - 1552-4825
VL - 158 A
SP - 2091
EP - 2099
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 9
ER -