Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate

Downey, Louise; Keen, T J; Jalili, I K; McHale, John C.; Aldred, Michael J.; Robertson, Stephen P.; Mighell, Alan J.; FAYLE, S. A.; Wissinger, Bernd; Inglehearn, Chris F.

doi:10.1038/sj.ejhg.5200884

Cited by 32 publications

(23 citation statements)

References 29 publications

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“…Two kindreds have been reported with 2q11 linked predisposition to recessive progressive cone-rod dystrophy and amelogenesis imperfecta (Downey et al 2002;Michaelides et al 2004). Furthermore, mutations of the MERTK gene have so far only been associated with arRP (Gal et al 2000).…”

Section: Discussionmentioning

confidence: 99%

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A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1

Zhao

Zhou

et al. 2006

Hum Genet

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Retinitis pigmentosa (RP) is a heterogeneous group of progressive degenerative disorders of the retina with a strong genetic component. Here, we report the clinical and genetic findings in a Chinese family in which autosomal dominant RP (adRP) was inherited by 13 affected members in four generations. Using a genome-wide linkage screening approach, a novel disease locus (RP33) was assigned to the long arm of chromosome 2. A maximum multi-point LOD score of 4.69 was reached at marker D2S2222 in 2q11.2. Meiotic recombination events in affected members placed RP33 in a 15.5 cM region between D2S329 and D2S2229. From meiotic recombinations in two unaffected members RP33 was further refined to a 4.8 cM (9.5 Mb) interval flanked by D2S2159 and D2S1343 in chromosomal region 2cen-q12.1. No disease-associated mutations were detected in the candidate genes SEMA4C, CNGA3 or HNK1ST from within the region. MERTK, a known disease gene for autosomal recessive RP located close to RP33 was similarly excluded. Clinically, the family presented relatively late onset of night blindness, gradually decreased visual acuity, progressive loss of peripheral visual field and typical RP fundus changes in the mid-periphery of the retina. In conclusion, a novel locus for adRP has been assigned to chromosomal region 2cen-q12.1, which in the present kindred was associated with a relatively late onset form of the disease.

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Section: Discussionmentioning

confidence: 99%

“…2) all over the test field in both the eyes. Nobody in this family presented defects of tooth enamel found in amelogenesis imperfecta associated with progressive cone-rod dystrophy (Downey et al 2002;Michaelides et al 2004). …”

Section: Clinical Characteristics Of the Adrp Familymentioning

confidence: 93%

A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1

Zhao

Zhou

et al. 2006

Hum Genet

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“…An autosomal-dominant, local hypoplastic form of AI (AIH2) has been mapped to a 4 Mb region of human chromosome 4q11-q21 that encompasses the gene encoding the ameloblast-specific protein ameloblastin, AMBN (MacDougall et al, 1997). Identification of a locus on chromosome 2q11 at which recessive AI and cone-rod dystrophy co-segregate has been reported (Downey et al, 2002). While AI is not in itself a fatal disease, the rapid attrition of teeth and consequent lack of ability to deal with even a soft diet that is characteristic of the condition must have been a serious handicap to survival in the past.…”

Section: Discussionmentioning

confidence: 99%

Evidence of amelogenesis imperfecta in an early African Homo erectus

Zilberman

Smith

Piperno

et al. 2004

Journal of Human Evolution

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The teeth of the Homo erectus child (Garba IV) recovered from Melka Kunture Ethiopia and dated to 1.5 Ma are characterized by generalized enamel dysplasia, reduced enamel radio-opacity, and severe attrition. This combination of features is found in a large group of hereditary, generalized enamel dysplasias known as amelogenesis imperfecta (AI). SEM studies carried out on epoxy replicas of teeth from the Garba IV child, confirmed that the defects noted were developmental and not due to diagenesis. The enamel prism arrangement is abnormal and there are deep vertical furrows lacking enamel on both buccal and lingual surfaces of all molars. The lesions differ from those characteristic of linear enamel hypoplasia that form discrete horizontal lesions or pits within otherwise normal enamel. We propose that the Garba IV child is the earliest example of AI and provides a link between palaeoanthropology and molecular biology in investigations of the evolutionary history of genetic disorders.

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“…Linkage studies have reported the association of syndromic ARAI with a locus on chromosome 2 in one family (Downey et al 2002), but results in another four families that segregate with nonsyndrome ARAIs do not show linkage with this region (Michaelides et al 2004). To date, only four genes have been demonstrated to possess causal roles in the etiology of this type of AI: the ENAM gene, the genes that code for the enamel proteases MMP-20 and KLK4, and the gene encoding WDR72 (El-Sayed et al 2009).…”

Section: Phenotype-genotype Correlations In Autosomally Inherited Casesmentioning

confidence: 99%

Defining a New Candidate Gene for Amelogenesis Imperfecta: From Molecular Genetics to Biochemistry

et al. 2010

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Amelogenesis imperfecta is a group of genetic conditions that affect the structure and clinical appearance of tooth enamel. The types (hypoplastic, hypocalcified, and hypomature) are correlated with defects in different stages of the process of enamel synthesis. Autosomal dominant, recessive, and X-linked types have been previously described. These disorders are considered clinically and genetically heterogeneous in etiology, involving a variety of genes, such as AMELX, ENAM, DLX3, FAM83H, MMP-20, KLK4, and WDR72. The mutations identified within these causal genes explain less than half of all cases of amelogenesis imperfecta. Most of the candidate and causal genes currently identified encode proteins involved in enamel synthesis. We think it is necessary to refocus the search for candidate genes using biochemical processes. This review provides theoretical evidence that the human SLC4A4 gene (sodium bicarbonate cotransporter) may be a new candidate gene.

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Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate

Cited by 32 publications

References 29 publications

A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1

A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1

Evidence of amelogenesis imperfecta in an early African Homo erectus

Defining a New Candidate Gene for Amelogenesis Imperfecta: From Molecular Genetics to Biochemistry

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