Further Characterization of Microdeletion Syndrome Involving 2p15-p16.1

被引：28

作者：

Felix, Temis Maria ^{[1
]}

Petrin, Aline Lourenco ^{[2
]}

Vieira Sanseverino, Maria Teresa ^{[1
]}

Murray, Jeffrey C. ^{[2
]}

机构：

[1] Hosp Clin Porto Alegre, Serv Genet Med, BR-90035903 Porto Alegre, RS, Brazil

[2] Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2010年 / 152A卷 / 10期

关键词：

microdeletion; chromosome; 2; paternal origin; COMPARATIVE GENOMIC HYBRIDIZATION; MENTAL-RETARDATION; CONGENITAL-ANOMALIES; DYSMORPHIC FEATURES; ARRAY-CGH; REARRANGEMENTS; POLYMORPHISM; 2P15-16.1; DELETION; PATIENT;

D O I：

10.1002/ajmg.a.33612

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a patient presenting with cognitive delay, prenatal and postnatal growth deficiency, microcephaly, ptosis of eyelids, high and broad nasal root, and camptodactyly. Analysis of a dense whole genome single-nucleotide polymorphism (SNP) array showed a de novo 3.35 Mb deletion on 2p15-p16.1. In order to study the parental origin of the deletion we analyzed selected SNPs in the deleted area in the proband and her parents showing Mendelian incompatibilities suggesting a de novo deletion on the chromosome of paternal origin. Based on the five cases described previously in the literature, we have narrowed the critical region responsible for the 2p15-p16.1 microdeletion syndrome phenotype. The critical region does not include the VRK2 gene that had been speculated to have a role in cortical dysplasia. However, the association of the VRK2 gene with cortical dysplasia remains to be determined, as MRI imaging of the brain and gene content of the 2p15-16 deletion becomes established in more patients. (C) 2010 Wiley-Liss, Inc.

引用

页码：2604 / 2608

页数：5

共 14 条

[1] The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15 [J].

Chabchoub, E. ;

Vermeesch, J. R. ;

de Ravel, T. ;

de Cock, P. ;

Fryns, J-P .

JOURNAL OF MEDICAL GENETICS, 2008, 45 (03) :189-192

[2] Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16 [J].

Chandler, KE ;

Del Rio, A ;

Rakshi, K ;

Springell, K ;

Williams, DK ;

Stoodley, N ;

Woods, CG ;

Pilz, DT .

BRAIN, 2006, 129 :272-277

[3] A high-resolution survey of deletion polymorphism in the human genome [J].

Conrad, DF ;

Andrews, TD ;

Carter, NP ;

Hurles, ME ;

Pritchard, JK .

NATURE GENETICS, 2006, 38 (01) :75-81

[4] A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis [J].

De Leeuw, N. ;

Pfundt, R. ;

Koolen, D. A. ;

Neefs, I. ;

Scheltinga, I. ;

Mieloo, H. ;

Sistermans, E. A. ;

Nillesen, W. ;

Smeets, D. F. ;

de Vries, B. B. A. ;

Knoers, N. V. A. M. .

JOURNAL OF MEDICAL GENETICS, 2008, 45 (02) :122-124

[5] Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays [J].

Hoyer, Juliane ;

Dreweke, Alexander ;

Becker, Christian ;

Goehring, Ina ;

Thiel, Christian T. ;

Peippo, Maarit M. ;

Rauch, Ralf ;

Hofbeck, Michael ;

Trautmann, Udo ;

Zweier, Christiane ;

Zenker, Martin ;

Hueffmeier, Ulrike ;

Kraus, Comelia ;

Ekici, Arif B. ;

Rueschendorf, Franz ;

Nuernberg, Peter ;

Reis, Andre ;

Rauch, Anita .

JOURNAL OF MEDICAL GENETICS, 2007, 44 (10) :629-636

[6]

Knight SJL, 1997, EUR J HUM GENET, V5, P1

[7] Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA) [J].

Koolen, DA ;

Nillesen, WM ;

Versteeg, MHA ;

Merkx, GFM ;

Knoers, NVAM ;

Kets, M ;

Vermeer, S ;

van Ravenswaaij, CMA ;

de Kovel, CG ;

Brunner, HG ;

Smeets, D ;

de Vries, BBA ;

Sistermans, EA .

JOURNAL OF MEDICAL GENETICS, 2004, 41 (12) :892-899

[8] A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion [J].

Liang, J-S ;

Shimojima, K. ;

Ohno, K. ;

Sugiura, C. ;

Une, Y. ;

Ohno, K. ;

Yamamoto, T. .

JOURNAL OF MEDICAL GENETICS, 2009, 46 (09) :645-647

[9] Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports [J].

Menten, B. ;

Maas, N. ;

Thienpont, B. ;

Buysse, K. ;

Vandesompele, J. ;

Melotte, C. ;

de Ravel, T. ;

Van Vooren, S. ;

Balikova, I. ;

Backx, L. ;

Janssens, S. ;

De Paepe, A. ;

De Moor, B. ;

Moreau, Y. ;

Marynen, P. ;

Fryns, J-P ;

Mortier, G. ;

Devriendt, K. ;

Speleman, F. ;

Vermeesch, J. R. .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (08) :625-633

[10] Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1 [J].

Rajcan-Separovic, E. ;

Harvard, C. ;

Liu, X. ;

McGillivray, B. ;

Hall, J. G. ;

Qiao, Y. ;

Hurlburt, J. ;

Hildebrand, J. ;

Mickelson, E. C. R. ;

Holden, J. J. A. ;

Lewis, M. E. S. .

JOURNAL OF MEDICAL GENETICS, 2007, 44 (04) :269-276

← 1 2 →