Renal-retinal syndromes: Association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus

被引：66

作者：

Caridi, G

Murer, L

Bellantuono, R

Sorino, P

Caringella, DA

Gusmano, R

Ghiggeri, GM

机构：

[1] G Gaslini Children Hosp, Dept Nephrol, Genoa, Italy

[2] Univ Padua, Dept Pediat, I-35100 Padua, Italy

[3] Di Venere Giovanni XXIII Hosp, Nephrol Sect, Bari, Italy

来源：

AMERICAN JOURNAL OF KIDNEY DISEASES | 1998年 / 32卷 / 06期

关键词：

retinal dystrophy; nephronophthisis; NPH1 gene locus;

D O I：

10.1016/S0272-6386(98)70083-6

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

Tapeto-retinal degeneration is frequent in patients with nephronophthisis. Association of the most severe forms of tapeto-retinal dystrophy with NPH identities a syndrome described first by Senior et al and Loken et al. This syndrome is distinct on molecular grounds from pure renal nephronophthisis (NPH1), which has its gene locus mapped on chromosome 2q13. We describe three families with large homozygous deletion of the NPH1 locus in which mild to moderate ocular lesions due to tapeto-retinal degeneration coexisted and were correlated to renal defects. This new association of NPH1 with retinal dystrophy is characterized by focal lesions of retina and is pauci-symptomatic in clinical presentation. For this reason it may remain unrecognized in most NPH1 patients. (C) 1998 by the National Kidney Foundation, Inc.

引用

页码：1059 / 1062

页数：4

共 12 条

[1] A GENE FOR FAMILIAL JUVENILE NEPHRONOPHTHISIS (RECESSIVE MEDULLARY CYSTIC KIDNEY-DISEASE) MAPS TO CHROMOSOME-2P [J].

ANTIGNAC, C ;

ARDUY, CH ;

BECKMANN, JS ;

BENESSY, F ;

GROS, F ;

MEDHIOUB, M ;

HILDEBRANDT, F ;

DUFIER, JL ;

KLEINKNECHT, C ;

BROYER, M ;

WEISSENBACH, J ;

HABIB, R ;

COHEN, D .

NATURE GENETICS, 1993, 3 (04) :342-345

[2] A GENE FOR LEBERS CONGENITAL AMAUROSIS MAPS TO CHROMOSOME 17P [J].

CAMUZAT, A ;

DOLLFUS, H ;

ROZET, JM ;

GERBER, S ;

BONNEAU, D ;

BONNEMAISON, M ;

BRIARD, ML ;

DUFIER, JL ;

GHAZI, I ;

LEOWSKI, C ;

WEISSENBACH, J ;

FREZAL, J ;

MUNNICH, A ;

KAPLAN, J .

HUMAN MOLECULAR GENETICS, 1995, 4 (08) :1447-1452

[3] GENETIC-LINKAGE OF CONE-ROD RETINAL DYSTROPHY TO CHROMOSOME 19Q AND EVIDENCE FOR SEGREGATION DISTORTION [J].

EVANS, K ;

FRYER, A ;

INGLEHEARN, C ;

DUVALLYOUNG, J ;

WHITTAKER, JL ;

GREGORY, CY ;

BUTLER, R ;

EBENEZER, N ;

HUNT, DM ;

BHATTACHARYA, S .

NATURE GENETICS, 1994, 6 (02) :210-213

[4] 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

[5] Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy [J].

Gu, SM ;

Thompson, DA ;

Srikumari, CRS ;

Lorenz, B ;

Finckh, U ;

Nicoletti, A ;

Murthy, KR ;

Rathmann, M ;

Kumaramanickavel, G ;

Denton, MJ ;

Gal, A .

NATURE GENETICS, 1997, 17 (02) :194-197

[6] A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 [J].

Hildebrandt, F ;

Otto, E ;

Rensing, C ;

Nothwang, HG ;

Vollmer, M ;

Adolphs, J ;

Hanusch, H ;

Brandis, M .

NATURE GENETICS, 1997, 17 (02) :149-153

[7] Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis [J].

Konrad, M ;

Saunier, S ;

Heidet, L ;

Silbermann, F ;

Benessy, F ;

Calado, J ;

LePaslier, D ;

Broyer, M ;

Gubler, MC ;

Antignac, C .

HUMAN MOLECULAR GENETICS, 1996, 5 (03) :367-371

[8] HEREDITARY RENAL DYSPLASIA AND BLINDNESS [J].

LOKEN, AC ;

JOLSTER, NJ ;

HANSSEN, O ;

HALVORSEN, S .

ACTA PAEDIATRICA, 1961, 50 (02) :177-+

[9] Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa [J].

Maw, MA ;

Kennedy, B ;

Knight, A ;

Bridges, R ;

Roth, KE ;

Mani, EJ ;

Mukkadan, JK ;

Nancarrow, D ;

Crabb, JW ;

Denton, MJ .

NATURE GENETICS, 1997, 17 (02) :198-200

[10] Construction of a gene map of the nephronophthisis type 1 (NPHP1) region on human chromosome 2q12-q13 [J].

Nothwang, HG ;

Stubanus, M ;

Adolphs, J ;

Hanusch, H ;

Vossmerbäumer, U ;

Denich, D ;

Kübler, M ;

Mincheva, A ;

Lichter, P ;

Hildebrandt, F .

GENOMICS, 1998, 47 (02) :276-285

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