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Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype
Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype
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
1552-4825
2091-2099
Allanson, Judith
cdcd9371-693b-4927-8848-08be07ba72be
Smith, Amanda
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Hare, Heather
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Albrecht, Beate
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Bijlsma, Emilia
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Dallapiccola, Bruno
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Donti, Emilio
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Fitzpatrick, David
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Isidor, Bertrand
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Lachlan, Katherine
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Le Caignec, Cedric
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Prontera, Paolo
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Raas-Rothschild, Annick
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Rogaia, Daniela
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van Bon, Bregje
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Aradhya, Swaroop
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Crocker, Susan F.
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Jarinova, Olga
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McGowan-Jordan, Jean
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Boycott, Kym
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Bulman, Dennis
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Fagerberg, Christina Ringmann
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Allanson, Judith
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Smith, Amanda
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Hare, Heather
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Albrecht, Beate
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Bijlsma, Emilia
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Dallapiccola, Bruno
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Donti, Emilio
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Fitzpatrick, David
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Isidor, Bertrand
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Lachlan, Katherine
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Le Caignec, Cedric
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Prontera, Paolo
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Raas-Rothschild, Annick
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Rogaia, Daniela
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van Bon, Bregje
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Aradhya, Swaroop
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Crocker, Susan F.
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Jarinova, Olga
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McGowan-Jordan, Jean
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Boycott, Kym
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Bulman, Dennis
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Fagerberg, Christina Ringmann
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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, Raas-Rothschild, Annick, Rogaia, Daniela, van Bon, Bregje, Aradhya, Swaroop, Crocker, Susan F., Jarinova, Olga, McGowan-Jordan, Jean, Boycott, Kym, Bulman, Dennis and Fagerberg, Christina Ringmann (2012) Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype. American Journal of Medical Genetics Part A, 158A (9), 2091-2099. (doi:10.1002/ajmg.a.35446). (PMID:22821852)

Record type: Article

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

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e-pub ahead of print date: 20 July 2012
Published date: September 2012
Organisations: Human Development & Health

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Local EPrints ID: 341502
URI: https://eprints.soton.ac.uk/id/eprint/341502
ISSN: 1552-4825
PURE UUID: 6fc2799a-d037-42f4-8ae6-655894df19d0

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Date deposited: 27 Jul 2012 09:09
Last modified: 18 Jul 2017 05:35

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Contributors

Author: Judith Allanson
Author: Amanda Smith
Author: Heather Hare
Author: Beate Albrecht
Author: Emilia Bijlsma
Author: Bruno Dallapiccola
Author: Emilio Donti
Author: David Fitzpatrick
Author: Bertrand Isidor
Author: Katherine Lachlan
Author: Cedric Le Caignec
Author: Paolo Prontera
Author: Annick Raas-Rothschild
Author: Daniela Rogaia
Author: Bregje van Bon
Author: Swaroop Aradhya
Author: Susan F. Crocker
Author: Olga Jarinova
Author: Jean McGowan-Jordan
Author: Kym Boycott
Author: Dennis Bulman
Author: Christina Ringmann Fagerberg

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