An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4

被引：16

作者：

Kahrizi, Kimia ^{[2
]}

Najmabadi, Hossein ^{[2
]}

Kariminejad, Roxana ^{[2
]}

Jamali, Payman ^{[2
]}

Malekpour, Mahdi ^{[2
]}

Garshasbi, Masoud ^{[1
,2
]}

Ropers, Hans Hilger ^{[1
]}

Kuss, Andreas Walter ^{[1
]}

Tzschach, Andreas ^{[1
]}

机构：

[1] Max Planck Inst Mol Genet, Dept Human Mol Genet, D-14195 Berlin, Germany

[2] Univ Social Welfare & Rehabil Sci, Ctr Gene Res, Tehran, Iran

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2009年 / 17卷 / 01期

关键词：

mental retardation; autosomal recessive; consanguinity; cataract; coloboma; kyphosis; MUTATIONS; SUBUNIT; ARRAY;

D O I：

10.1038/ejhg.2008.159

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

We report on three siblings with a novel mental retardation (MR) syndrome who were born to distantly related Iranian parents. The clinical problems comprised severe MR, cataracts with onset in late adolescence, kyphosis, contractures of large joints, bulbous nose with broad nasal bridge, and thick lips. Two patients also had uni-or bilateral iris coloboma. Linkage analysis revealed a single 10.4Mb interval of homozygosity with significant LOD score in the pericentromeric region of chromosome 4 flanked by SNPs rs728293 (4p12) and rs1105434 (4q12). This interval contains more than 40 genes, none of which has been implicated in MR so far. The identification of the causative gene defect for this syndrome will provide new insights into the development of the brain and the eye.

引用

页码：125 / 128

页数：4

共 15 条

[1] Mutation in rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome [J].

Aligianis, IA ;

Morgan, NV ;

Mione, M ;

Johnson, CA ;

Rosser, E ;

Hennekam, RC ;

Adams, G ;

Trembath, RC ;

Pilz, DT ;

Stoodley, N ;

Moore, AT ;

Wilson, S ;

Maher, ER .

AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 78 (04) :702-707

[2] Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome [J].

Aligianis, IA ;

Johnson, CA ;

Gissen, P ;

Chen, DR ;

Hampshire, D ;

Hoffmann, K ;

Maina, EN ;

Morgan, NV ;

Tee, L ;

Morton, J ;

Ainsworth, JR ;

Horn, D ;

Rosser, E ;

Cole, TRP ;

Stolte-Dijkstra, I ;

Fieggen, K ;

Clayton-Smith, J ;

Mégarbané, A ;

Shield, JP ;

Newbury-Ecob, R ;

Dobyns, WB ;

Graham, JM ;

Kjaer, KW ;

Warburg, M ;

Bond, J ;

Trembath, RC ;

Harris, LW ;

Takai, Y ;

Mundlos, S ;

Tannahill, D ;

Woods, CG ;

Maher, ER .

NATURE GENETICS, 2005, 37 (03) :221-223

[3] CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds [J].

Bar-Yosef, U ;

Abuelaish, I ;

Harel, T ;

Hendler, N ;

Ofir, R ;

Birk, OS .

HUMAN GENETICS, 2004, 115 (04) :302-309

[4] IRIS COLOBOMA, PTOSIS, HYPERTELORISM, AND MENTAL-RETARDATION - A NEW SYNDROME [J].

BARAITSER, M ;

WINTER, RM .

JOURNAL OF MEDICAL GENETICS, 1988, 25 (01) :41-43

[5] SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly [J].

Garshasbi, M ;

Motazacker, MM ;

Kahrizi, K ;

Behjati, F ;

Abedini, SS ;

Nieh, SE ;

Firouzabadi, SG ;

Becker, C ;

Rüschendorf, F ;

Nürnberg, P ;

Tzschach, A ;

Vazifehmand, R ;

Erdogan, F ;

Ullmann, R ;

Lenzner, S ;

Kuss, AW ;

Ropers, HH ;

Najmabadi, H .

HUMAN GENETICS, 2006, 118 (06) :708-715

[6] MUTATION OF THE KIT (MAST STEM-CELL GROWTH-FACTOR RECEPTOR) PROTOONCOGENE IN HUMAN PIEBALDISM [J].

GIEBEL, LB ;

SPRITZ, RA .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (19) :8696-8699

[7] Large-scale genotyping of complex DNA [J].

Kennedy, GC ;

Matsuzaki, H ;

Dong, SL ;

Liu, WM ;

Huang, J ;

Liu, GY ;

Xu, X ;

Cao, MQ ;

Chen, WW ;

Zhang, J ;

Liu, WW ;

Yang, G ;

Di, XJ ;

Ryder, T ;

He, ZJ ;

Surti, U ;

Phillips, MS ;

Boyce-Jacino, MT ;

Fodor, SPA ;

Jones, KW .

NATURE BIOTECHNOLOGY, 2003, 21 (10) :1233-1237

[8] The epidemiology of mental retardation: Challenges and opportunities in the new millennium [J].

Leonard, H ;

Wen, XY .

MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS, 2002, 8 (03) :117-134

[9] BETA-SARCOGLYCAN - CHARACTERIZATION AND ROLE IN LIMB-GIRDLE MUSCULAR-DYSTROPHY LINKED TO 4Q12 [J].

LIM, LE ;

DUCLOS, F ;

BROUX, O ;

BOURG, N ;

SUNADA, Y ;

ALLAMAND, V ;

MEYER, J ;

RICHARD, IZ ;

MOOMAW, C ;

SLAUGHTER, C ;

TOME, FMS ;

FARDEAU, M ;

JACKSON, CE ;

BECKMANN, JS ;

CAMPBELL, KP .

NATURE GENETICS, 1995, 11 (03) :257-265

[10] Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array [J].

Matsuzaki, H ;

Loi, H ;

Dong, S ;

Tsai, YY ;

Fang, J ;

Law, J ;

Di, XJ ;

Liu, WM ;

Yang, G ;

Liu, GY ;

Huang, J ;

Kennedy, GC ;

Ryder, TB ;

Marcus, GA ;

Walsh, PS ;

Shriver, MD ;

Puck, JM ;

Jones, KW ;

Mei, R .

GENOME RESEARCH, 2004, 14 (03) :414-425

← 1 2 →