PITPNM3 is an uncommon cause of cone and cone-rod dystrophies

被引：11

作者：

Kohn, Linda ^{[1
]}

Kohl, Susanne ^{[2
]}

Bowne, Sara J. ^{[3
,4
]}

Sullivan, Lori S. ^{[3
,4
]}

Kellner, Ulrich ^{[5
]}

Daiger, Stephen P. ^{[3
,4
]}

Sandgren, Ola ^{[6
]}

Golovleva, Irina ^{[1
]}

机构：

[1] Umea Univ, Dept Med Biosci Med & Clin Genet, S-90187 Umea, Sweden

[2] Univ Tubingen, Mol Genet Lab, Inst Ophthalm Res, Ctr Ophthalmol, D-72074 Tubingen, Germany

[3] Univ Texas Hlth Sci Ctr San Antonio, Ctr Human Genet, San Antonio, TX 78229 USA

[4] Univ Texas Hlth Sci Ctr San Antonio, Dept Ophthalmol & Visual Sci, San Antonio, TX 78229 USA

[5] AugenZentrum Siegburg, Siegburg, Germany

[6] Umea Univ, Dept Clin Biosci, S-90187 Umea, Sweden

来源：

OPHTHALMIC GENETICS | 2010年 / 31卷 / 03期

关键词：

PITPNM3; mutation; cone dystrophy; AUTOSOMAL-DOMINANT CONE; MUTATIONS; GENE;

D O I：

10.3109/13816810.2010.486776

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The first mutation in PITPNM3, a human homologue of the Drosophila retinal degeneration (rdgB) gene was reported in two large Swedish families with autosomal dominant cone dystrophy. To establish the global impact that PITPNM3 has on retinal degenerations we screened 163 patients from Denmark, Germany, the UK, and USA. Four sequence variants, two missence mutations and two intronic changes were identified in the screen. Thus, mutations in PITPNM3 do not appear to be a major cause of cone or cone-rod dystrophy.

引用

页码：139 / 140

页数：2

共 10 条

[1]

Downes SM, 2001, ARCH OPHTHALMOL-CHIC, V119, P96

[2] Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor [J].

Freund, CL ;

GregoryEvans, CY ;

Furukawa, T ;

Papaioannou, M ;

Looser, J ;

Ploder, L ;

Bellingham, J ;

Ng, D ;

Herbrick, JAS ;

Duncan, A ;

Scherer, SW ;

Tsui, LC ;

LoutradisAnagnostou, A ;

Jacobson, SG ;

Cepko, CL ;

Bhattacharya, SS ;

McInnes, RR .

CELL, 1997, 91 (04) :543-553

[3] Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7) [J].

Johnson, S ;

Halford, S ;

Morris, AG ;

Patel, RJ ;

Wilkie, SE ;

Hardcastle, AJ ;

Moore, AT ;

Zhang, K ;

Hunt, DM .

GENOMICS, 2003, 81 (03) :304-314

[4] Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy [J].

Kelsell, RE ;

Gregory-Evans, K ;

Payne, AN ;

Perrault, I ;

Kaplan, J ;

Yang, RB ;

Garbers, DL ;

Bird, AC ;

Moore, AT ;

Hunt, DM .

HUMAN MOLECULAR GENETICS, 1998, 7 (07) :1179-1184

[5] Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families [J].

Kohn, Linda ;

Kadzhaev, Konstantin ;

Burstedt, Marie S. I. ;

Haraldsson, Susann ;

Hallberg, Bengt ;

Sandgren, Ola ;

Golovleva, Irina .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2007, 15 (06) :664-671

[6]

Lev S, 1999, MOL CELL BIOL, V19, P2278

[7] Molecular aspects of retinal degenerative diseases [J].

Lev, S .

CELLULAR AND MOLECULAR NEUROBIOLOGY, 2001, 21 (06) :575-589

[8] Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy [J].

Maugeri, A ;

Klevering, BJ ;

Rohrschneider, K ;

Blankenagel, A ;

Brunner, HG ;

Deutman, AF ;

Hoyng, CB ;

Cremers, FPM .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) :960-966

[9] Prevalence of AIPL1 mutations in inherited retinal degenerative disease [J].

Sohocki, MM ;

Perrault, I ;

Leroy, BP ;

Payne, AM ;

Dharmaraj, S ;

Bhattacharya, SS ;

Kaplan, J ;

Maumenee, IH ;

Koenekoop, R ;

Meire, FM ;

Birch, DG ;

Heckenlively, JR ;

Daiger, SP .

MOLECULAR GENETICS AND METABOLISM, 2000, 70 (02) :142-150

[10] Mutations in the RPGR gene cause X-linked cone dystrophy [J].

Yang, ZL ;

Peachey, NS ;

Moshfeghi, DM ;

Thirumalaichary, S ;

Chorich, L ;

Shugart, YY ;

Fan, K ;

Zhang, K .

HUMAN MOLECULAR GENETICS, 2002, 11 (05) :605-611

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