Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta

被引：77

作者：

Polok, Bozena ^{[1
,2
]}

Escber, Pascal ^{[1
,2
]}

Ambresin, Aude ^{[2
,3
]}

Chouery, Eliane ^{[4
]}

Bolay, Sylvain ^{[1
]}

Meunier, Isabelle ^{[5
]}

Nan, Francis ^{[5
]}

Hamel, Christian ^{[5
]}

Munier, Francis L. ^{[2
,3
]}

Thilo, Bernard ^{[6
]}

Megarbane, Andre ^{[4
,7
]}

Schorderet, Daniel F. ^{[1
,2
,8
]}

机构：

[1] Inst Rech Ophtalmol, CH-1950 Sion, Switzerland

[2] Univ Lausanne, Dept Ophthalmol, CH-1004 Lausanne, Switzerland

[3] Jules Gonin Eye Hosp, CH-1004 Lausanne, Switzerland

[4] Univ St Joseph, Fac Med, Unit Genet Med, Beirut 11042020, Lebanon

[5] CHRU Montpellier, Ctr Reference Affect Sensorielles Genet, F-34091 Montpellier, France

[6] Private Dent Practice, CH-1009 Pully, Switzerland

[7] Inst Jerome Lejeune, F-75015 Paris, France

[8] Ecole Polytech Fed Lausanne, CH-1015 Lausanne, Switzerland

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2009年 / 84卷 / 02期

基金：

瑞士国家科学基金会;

关键词：

GENE; PROTEINS; FAMILY; LOCUS; ACDP;

D O I：

10.1016/j.ajhg.2009.01.006

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Cone-rod dystrophies are inherited dystrophies of the retina characterized by the accumulation of deposits mainly localized to the cone-rich macular region of the eye. Dystrophy can be limited to the retina or be part of a syndrome. Unlike nonsyndromic cone-rod dystrophies, syndromic cone-rod dystrophies are genetically heterogeneous with mutations in genes encoding structural, cell-adhesion, and transporter proteins. Using a genome-wide single-nucleotide polymorphism (SNIP) haplotype analysis to fine map the locus and a gene-candidate approach, we Identified homozygous mutations in the ancient conserved domain protein 4 gene (CNNM4) that either generate a truncated protein or occur in highly conserved regions of the protein. Given that CNNM4 is implicated in metal ion transport, cone-rod dystrophy and amelogenesis imperfecta may originate from abnormal ion homeostasis.

引用

页码：259 / 265

页数：7

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