Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1

Clinical Genetics

Volumn 59, Issue 6, 2001, Pages 424-429

  Katsanis, N ^a   Shroyer, N F ^a   Lewis, R A ^a,b   Cavender, J C ^c,d   Al Rajhi, A A ^c   Jabak, M ^c   Lupski, J R ^a,b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^d DARTMOUTH MEDICAL SCHOOL   (United States)

Author keywords

Fleck dystrophy; Genetic heterogeneity; Linkage; Mutation; Retinal dystrophy

Indexed keywords

RETINOID BINDING PROTEIN;

ADULT; AGE; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONSANGUINITY; DISEASE COURSE; EVALUATION; EYE FUNDUS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; NIGHT BLINDNESS; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; RETINA; RETINA DYSTROPHY; RETINITIS; RETINITIS PIGMENTOSA; SAUDI ARABIA;

ADOLESCENT; ADULT; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; HUMANS; MALE; MICROSATELLITE REPEATS; NIGHT BLINDNESS; PEDIGREE; RETINITIS PIGMENTOSA;

EID: 0034955572     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.590607.x     Document Type: Article

References (12)

1. Retinitis punctata albescens: A functional evaluation of an unusual case
2. A frequent 1085delC/insGAAG with fundus albipunctatus
3. Mutations in the gene encoding 11-cis retinaol dehydrogenase cause delayed dark adaptation and fundus albipunctatus
4. Recessive mutations in the RLBP1 gene encoding cellular retinaldelhyde-binding protein in a form of retinitis punctata albescens
5. Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26
6. Retinitis punctata albescens associated with the arg135-to-trp mutation in the rhodopsin gene
7. Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13 through linkage and haplotype analysis of 91 pedigrees
8. Identification and mapping of a novel human gene, HRMT1L1, homologous to the rat protein arginine N-methyltransferase 1(PRMT1) gene
9. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome
10. Mutation of the gene encoding cellular retinalde-hyde-binding protein in autosomal recessive retinitis pigmentosa
11. Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus