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Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients
Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients
Interstitial microdeletions of 20q chromosome are rare, only 17 patients have been reported in the literature to date. Among them, only six carried a proximal 20q11.21-q11.23 deletion, with a size ranging from 2.6 to 6.8 Mb. The existence of a 20q11.2 microdeletion syndrome has been proposed, based on five previously reported cases that displayed anomalies of the extremities, intellectual disability, feeding difficulties, craniofacial dysmorphism and variable malformations. To further characterize this syndrome, we report on six new patients with 20q11.2 microdeletions diagnosed by whole-genome array-based comparative genomic hybridization. These patient reports more precisely refined the phenotype and narrowed the minimal critical region involved in this syndrome. Careful clinical assessment confirms the distinctive clinical phenotype. The craniofacial dysmorphism consists of high forehead, frontal bossing, enophthalmos, and midface hypoplasia. We have identified a 1.62 megabase minimal critical region involved in this syndrome encompassing three genes - GDF5, EPB41L1, andSAMHD1– which are strong candidates for different aspects of the phenotype. These results support that 20q11.2 microdeletion syndrome is a new contiguous gene deletion syndrome with a recognizable phenotype.
20q11.2 deletion syndrome, 20q11.21q11.23 deletion, anomalies of hands, anomalies of feet, facial dysmorphisms, contiguous gene deletion syndrome, GDF5, EPB41L1, SAMHD1
1552-4825
504-511
Jedraszak, Guillaume
57db76aa-a6cc-4a75-94eb-dd1f11148c15
Demeer, Bénédicte
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Mathieu-Dramard, Michèle
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Andrieux, Joris
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Receveur, Aline
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Weber, Astrid
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Maye, Una
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Foulds, Nicola
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Temple, IK
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Crolla, John
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Alex-Cordier, Marie-Pierre
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Sanlaville, Damien
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Ewans, Lisa
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Wilson, Meredith
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Armstrong, Ruth
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Clarkson, Amanda
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Copin, Henri
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Morin, Gilles
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Jedraszak, Guillaume
57db76aa-a6cc-4a75-94eb-dd1f11148c15
Demeer, Bénédicte
ddff33a1-4f31-4982-8931-bea181cef0f5
Mathieu-Dramard, Michèle
fea71e73-8988-466c-bd59-9f8258aca12e
Andrieux, Joris
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Receveur, Aline
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Weber, Astrid
68f254cc-0a8b-483a-83ce-0f7cbd4a85d5
Maye, Una
13008c15-722a-421a-aa06-dc781d243cae
Foulds, Nicola
5e153e9f-caae-45f5-b6f0-943bd567558e
Temple, IK
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Crolla, John
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Alex-Cordier, Marie-Pierre
e986933b-e4bd-466f-9912-d985f3f4c7bb
Sanlaville, Damien
0862e2cf-993a-4832-8f26-2a027616721a
Ewans, Lisa
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Wilson, Meredith
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Armstrong, Ruth
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Clarkson, Amanda
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Copin, Henri
28d383e0-ab91-4711-b6b0-58a6853432f1
Morin, Gilles
49752aaa-6ac9-4d6b-a3bc-4e1ee7e228bf

Jedraszak, Guillaume, Demeer, Bénédicte, Mathieu-Dramard, Michèle, Andrieux, Joris, Receveur, Aline, Weber, Astrid, Maye, Una, Foulds, Nicola, Temple, IK, Crolla, John, Alex-Cordier, Marie-Pierre, Sanlaville, Damien, Ewans, Lisa, Wilson, Meredith, Armstrong, Ruth, Clarkson, Amanda, Copin, Henri and Morin, Gilles (2015) Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients. American Journal of Medical Genetics part A, 167 (3), 504-511. (doi:10.1002/ajmg.a.36882).

Record type: Article

Abstract

Interstitial microdeletions of 20q chromosome are rare, only 17 patients have been reported in the literature to date. Among them, only six carried a proximal 20q11.21-q11.23 deletion, with a size ranging from 2.6 to 6.8 Mb. The existence of a 20q11.2 microdeletion syndrome has been proposed, based on five previously reported cases that displayed anomalies of the extremities, intellectual disability, feeding difficulties, craniofacial dysmorphism and variable malformations. To further characterize this syndrome, we report on six new patients with 20q11.2 microdeletions diagnosed by whole-genome array-based comparative genomic hybridization. These patient reports more precisely refined the phenotype and narrowed the minimal critical region involved in this syndrome. Careful clinical assessment confirms the distinctive clinical phenotype. The craniofacial dysmorphism consists of high forehead, frontal bossing, enophthalmos, and midface hypoplasia. We have identified a 1.62 megabase minimal critical region involved in this syndrome encompassing three genes - GDF5, EPB41L1, andSAMHD1– which are strong candidates for different aspects of the phenotype. These results support that 20q11.2 microdeletion syndrome is a new contiguous gene deletion syndrome with a recognizable phenotype.

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Clinical and Molecular Characterization of the 20q11.2 Microdeletion Syndrome Six New Patients.pdf - Accepted Manuscript
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e-pub ahead of print date: 8 January 2015
Published date: March 2015
Keywords: 20q11.2 deletion syndrome, 20q11.21q11.23 deletion, anomalies of hands, anomalies of feet, facial dysmorphisms, contiguous gene deletion syndrome, GDF5, EPB41L1, SAMHD1
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 373292
URI: http://eprints.soton.ac.uk/id/eprint/373292
ISSN: 1552-4825
PURE UUID: db430f04-10c0-456b-a5f1-7162fea2bcaf
ORCID for IK Temple: ORCID iD orcid.org/0000-0002-6045-1781

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Date deposited: 14 Jan 2015 16:15
Last modified: 15 Mar 2024 03:00

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Contributors

Author: Guillaume Jedraszak
Author: Bénédicte Demeer
Author: Michèle Mathieu-Dramard
Author: Joris Andrieux
Author: Aline Receveur
Author: Astrid Weber
Author: Una Maye
Author: Nicola Foulds
Author: IK Temple ORCID iD
Author: John Crolla
Author: Marie-Pierre Alex-Cordier
Author: Damien Sanlaville
Author: Lisa Ewans
Author: Meredith Wilson
Author: Ruth Armstrong
Author: Amanda Clarkson
Author: Henri Copin
Author: Gilles Morin

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