Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11
Christian Wentzel
(1)
,
Evica Rajcan-Separovic
(2)
,
Claudia Ruivenkamp
(3)
,
Sandra Chantot-Bastaraud
(4)
,
Corinne Metay
(5)
,
Joris Andrieux
(6)
,
Göran Annerén
(1)
,
Antoinet Gijsbers
(3)
,
Luc Druart
(4)
,
Capucine Hyon
(7)
,
Marie-France Portnoi
(4)
,
Eva-Lena Stattin
(8)
,
Catherine Vincent-Delorme
(6)
,
Sarina G Kant
(3)
,
Michelle Steinraths
(9)
,
Sandrine Marlin
(4)
,
Irina Giurgea
(5)
,
Ann Charlotte Thuresson
(1)
1
Dept of Immunology, Genetics and Pathology
2 UBC - University of British Columbia
3 LUMC - Leiden University Medical Center
4 CHU Trousseau [APHP]
5 CHU Henri Mondor [Créteil]
6 Hôpital Jeanne de Flandre [Lille]
7 Hôpital Necker - Enfants Malades [AP-HP]
8 Umeå University, Sweden
9 Division of Medical Genetics,Victoria General Hospital, Victoria, BC
2 UBC - University of British Columbia
3 LUMC - Leiden University Medical Center
4 CHU Trousseau [APHP]
5 CHU Henri Mondor [Créteil]
6 Hôpital Jeanne de Flandre [Lille]
7 Hôpital Necker - Enfants Malades [AP-HP]
8 Umeå University, Sweden
9 Division of Medical Genetics,Victoria General Hospital, Victoria, BC
Sandra Chantot-Bastaraud
- Fonction : Auteur
- PersonId : 1182915
- IdHAL : sandra-chantot-bastaraud
- ORCID : 0000-0001-6446-3504
- IdRef : 090950348
Capucine Hyon
- Fonction : Auteur
- PersonId : 1396115
- ORCID : 0000-0003-2002-1039
- IdRef : 143304100
Irina Giurgea
- Fonction : Auteur
- PersonId : 854037
- IdHAL : irina-giurgea
- ORCID : 0000-0002-5035-2958
- IdRef : 17474711X
Ann Charlotte Thuresson
Connectez-vous pour contacter l'auteur
- Fonction : Auteur correspondant
- PersonId : 912863
Connectez-vous pour contacter l'auteur
Résumé
With the clinical implementation of genomic microarrays, the detection of cryptic unbalanced rearrangements in patients with syndromic developmental delay has considerably improved. Here we report the molecular karyotyping and phenotypic description of six new unrelated patients with partially overlapping microdeletions at 10p12.31p11.21 ranging from 1.0 Mb to 10.6 Mb. The smallest region of overlap is 306 kb, which includes gene, known to be associated with microtubule function and to play a role in cell division. Another patient has previously been described with a 10 Mb deletion, partially overlapping with our six patients. All seven patients have developmental delay and a majority of the patients have abnormal behaviour and dysmorphic features including bulbous nasal tip, deep set eyes, synophrys/thick eyebrows, and full cheeks, while other features varied. All patients also displayed various visual impairments and 6 out of 7 patients had cardiac malformations. Together with the previously reported patient, our study suggests that the detected deletions may represent a new contiguous gene syndrome caused by dosage sensitive genes that predispose to developmental delay.
Domaines
Génétique humaineFormat du dépôt | Fichier |
---|---|
Type de dépôt | Article dans une revue |
Titre |
en
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11
|
Résumé |
en
With the clinical implementation of genomic microarrays, the detection of cryptic unbalanced rearrangements in patients with syndromic developmental delay has considerably improved. Here we report the molecular karyotyping and phenotypic description of six new unrelated patients with partially overlapping microdeletions at 10p12.31p11.21 ranging from 1.0 Mb to 10.6 Mb. The smallest region of overlap is 306 kb, which includes gene, known to be associated with microtubule function and to play a role in cell division. Another patient has previously been described with a 10 Mb deletion, partially overlapping with our six patients. All seven patients have developmental delay and a majority of the patients have abnormal behaviour and dysmorphic features including bulbous nasal tip, deep set eyes, synophrys/thick eyebrows, and full cheeks, while other features varied. All patients also displayed various visual impairments and 6 out of 7 patients had cardiac malformations. Together with the previously reported patient, our study suggests that the detected deletions may represent a new contiguous gene syndrome caused by dosage sensitive genes that predispose to developmental delay.
|
Auteur(s) |
Christian Wentzel
1
, Evica Rajcan-Separovic
2
, Claudia Ruivenkamp
3
, Sandra Chantot-Bastaraud
4
, Corinne Metay
5
, Joris Andrieux
6
, Göran Annerén
1
, Antoinet Gijsbers
3
, Luc Druart
4
, Capucine Hyon
7
, Marie-France Portnoi
4
, Eva-Lena Stattin
8
, Catherine Vincent-Delorme
6
, Sarina G Kant
3
, Michelle Steinraths
9
, Sandrine Marlin
4
, Irina Giurgea
5
, Ann Charlotte Thuresson
1
1
Dept of Immunology, Genetics and Pathology
( 172272 )
- Suède
2
UBC -
University of British Columbia
( 366034 )
- Vancouver Campus, , 2329 West Mall, Vancouver, BC, V6T 1Z4 /
Okanagan Campus, 3333 University Way, Kelowna, BC, V1V 1V7
- Canada
3
LUMC -
Leiden University Medical Center
( 300851 )
- Leids Universitair Medisch Centrum, Universiteit Leiden - 1233 ZA, Leiden
- Pays-Bas
4
CHU Trousseau [APHP]
( 360410 )
- 26 Avenue du Dr Arnold Netter, 75012 Paris
- France
5
CHU Henri Mondor [Créteil]
( 366262 )
- Créteil
- France
6
Hôpital Jeanne de Flandre [Lille]
( 300137 )
- Avenue Eugène Avinée, 59000 Lille
- France
7
Hôpital Necker - Enfants Malades [AP-HP]
( 414766 )
- 149 Rue de Sèvres 75015 Paris
- France
8
Umeå University, Sweden
( 548056 )
- Umeå University
901 87 Umeå, Sweden
- Suède
9
Division of Medical Genetics,Victoria General Hospital, Victoria, BC
( 341685 )
-
- France
|
Comité de lecture |
Oui
|
Vulgarisation |
Non
|
Langue du document |
Anglais
|
Nom de la revue |
|
Date de production/écriture |
2010-12-20
|
Audience |
Internationale
|
Date de publication |
2011-04-27
|
Domaine(s) |
|
Financement |
|
Mots-clés |
en
10p deletion, developmental delay, WAC
|
DOI | 10.1038/ejhg.2011.71 |
Pubmed Id | 21522184 |
PubMed Central | PMC3179368 |
UT key WOS | 000294003100009 |
Origine :
Fichiers produits par l'(les) auteur(s)
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