Progress in Positional Cloning of RP10 (7q31.3), RP1 (8q11–q21), and VMD1 (8q24)

Daiger, Stephen P.; McGuire, Rachel E.; Sullivan, Lori S.; Sohocki, Melanie M.; Blanton, Susan H.; Humphries, Peter; Green, Eric D.; Mintz-Hittner, Helen A.; Heckenlively, John R.

doi:10.1007/978-1-4615-5933-7_30

Cited by 3 publications

(3 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Her youngest brother, examined at age seven, had experienced night blindness since early childhood and already had severe visual field constriction. These clinical findings suggested that both were homozygous for the RP1 mutation and linkage mapping confirmed they were homozygous for all tested markers across the RP1 critical region 22 .…”

mentioning

confidence: 54%

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

et al. 1999

Self Cite

View full text Add to dashboard Cite

Inherited retinal diseases are a common cause of visual impairment in children and young adults, often resulting in severe loss of vision in later life. The most frequent form of inherited retinopathy is retinitis pigmentosa (RP), with an approximate incidence of 1 in 3,500 individuals worldwide. RP is characterized by night blindness and progressive degeneration of the midperipheral retina, accompanied by bone spicule-like pigmentary deposits and a reduced or absent electroretinogram (ERG). The disease process culminates in severe reduction of visual fields or blindness. RP is genetically heterogeneous, with autosomal dominant, autosomal recessive and X-linked forms. Here we have identified two mutations in a novel retina-specific gene from chromosome 8q that cause the RP1 form of autosomal dominant RP in three unrelated families. The protein encoded by this gene is 2,156 amino acids and its function is currently unknown, although the amino terminus has similarity to that of the doublecortin protein, whose gene (DCX) has been implicated in lissencephaly in humans. Two families have a nonsense mutation in codon 677 of this gene (Arg677stop), whereas the third family has a nonsense mutation in codon 679 (Gln679stop). In one family, two individuals homozygous for the mutant gene have more severe retinal disease compared with heterozygotes.

show abstract

mentioning

confidence: 54%

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

et al. 1999

Self Cite

View full text Add to dashboard Cite

show abstract

“…The sequences of the primers and the PCR conditions were as previously described [15][16][17][18][19][20][21][22][23][24][25][26] and are summarised in supplementary table 1, which can be viewed on the JMG website (http:// www.jmedgenet.com/supplemental). In particular, we analysed all coding exons of the RHO, RDS, RP1, IMPDH1, PRPF31, CRX, NRL, FSCN2, HPRP3, and RP9 genes and the exons harbouring the previously identified mutations of the CA4 and PRPF8 genes, namely exons 1 and 42.…”

Section: Mutation Analysesmentioning

confidence: 99%

Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families

Ziviello

Simonelli²,

Testa³

et al. 2005

Journal of Medical Genetics

View full text Add to dashboard Cite

Retinitis pigmentosa is the most common form of retinal degeneration and is heterogeneous both clinically and genetically. The autosomal dominant forms (ADRP) can be caused by mutations in 12 different genes. This report describes the first simultaneous mutation analysis of all the known ADRP genes in the same population, represented by 43 Italian families. This analysis allowed the identification of causative mutations in 12 of the families (28% of the total). Seven different mutations were identified, two of which are novel (458delC and 6901CRT (P2301S), in the CRX and PRPF8 genes, respectively). Several novel polymorphisms leading to amino acid changes in the FSCN2, NRL, IMPDH1, and RP1 genes were also identified. Analysis of gene prevalences indicates that the relative involvement of the RHO and the RDS genes in the pathogenesis of ADRP is less in Italy than in US and UK populations. As causative mutations were not found in over 70% of the families analysed, this study suggests the presence of further novel genes or sequence elements involved in the pathogenesis of ADRP. R etinitis pigmentosa is a clinically and genetically heterogeneous type of retinal degeneration which results in progressive loss of vision. It is characterised by abnormalities of the photoreceptors or the retinal pigment epithelium. Patients with this disorder typically develop night blindness, followed by constriction of the peripheral visual fields, bone spicule-like pigmentary deposits, and abnormal electroretinography (ERG). In the more advanced stages of the disease, there are intraretinal and preretinal clumps of black melanin pigment, attenuated retinal vessels, loss of retinal pigment epithelium, and pallor of the optic nerve.1 The time of onset of the disease varies from childhood to middle age.2 The incidence is estimated to be 1 in 4000-5000 people in Western populations.3 4 Inheritance can be autosomal dominant, autosomal recessive, X linked, or in rare cases as a digenic trait. However, in the majority of cases (about 50-60% in the white population) it is impossible to establish the pattern of inheritance, and these cases are defined as ''sporadic. '' 5-7 Autosomal dominant retinitis pigmentosa (ADRP) represents between 15% and 35% of all cases of the disorder, depending on the countries and the ethnic groups analysed, with the highest values being found in the USA 8 and the lowest in southern Europe.9 A previous study reported that the prevalence of ADRP in the Italian population is about 17%, 10 which is concordant with estimates from other studies carried out in southern Europe. 9 To date, 12 genes have been clearly associated with the pathogenesis of this condition (RETnet, http://www.sph.uth.tmc.edu/Retnet/disease.htm). The rhodopsin (RHO) gene is the most commonly involved in ADRP (25-50% of cases) followed by RP1 (5-10%), RDS (5%), and IMPDH1 (5-10%). These prevalence values were all derived from different and heterogeneous studies mostly carried out in American and British populations, 6 11 12 and a simultaneous ...

show abstract

“…Genomic DNA samples from subjects were screened by SSCA, using published PCR primer sequences and conditions: rhodopsin [Daiger et al, 1997], peripherin/RDS [Daiger et al, 1997], CRX [Sohocki et al, 1998], RP1 , and AIPL1 [Sohocki et al, 2000].…”

Section: Sscp Analysismentioning

confidence: 99%

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

et al. 2000

Self Cite

View full text Add to dashboard Cite

Inherited retinopathies are a genetically and phenotypically heterogeneous group of diseases affecting approximately one in 2000 individuals worldwide. For the past 10 years, the Laboratory for Molecular Diagnosis of Inherited Eye Diseases (LMDIED) at the University of Texas‐Houston Health Science Center has screened subjects ascertained in the United States and Canada for mutations in genes causing dominant and recessive autosomal retinopathies. A combination of single strand conformational analysis (SSCA) and direct sequencing of five genes (rhodopsin, peripherin/RDS, RP1, CRX, and AIPL1) identified the disease‐causing mutation in approximately one‐third of subjects with autosomal dominant retinitis pigmentosa (adRP) or with autosomal dominant cone‐rod dystrophy (adCORD). In addition, the causative mutation was identified in 15% of subjects with Leber congenital amaurosis (LCA). Overall, we report identification of the causative mutation in 105 of 506 (21%) of unrelated subjects (probands) tested; we report five previously unreported mutations in rhodopsin, two in peripherin/RDS, and one previously unreported mutation in the cone‐rod homeobox gene, CRX. Based on this large survey, the prevalence of disease‐causing mutations in each of these genes within specific disease categories is estimated. These data are useful in estimating the frequency of specific mutations and in selecting individuals and families for mutation‐specific studies. Hum Mutat 17:42–51, 2001. © 2001 Wiley‐Liss, Inc.

show abstract

Progress in Positional Cloning of RP10 (7q31.3), RP1 (8q11–q21), and VMD1 (8q24)

Cited by 3 publications

References 21 publications

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

Contact Info

Product

Resources

About