Variations in NPHP5 in Patients With Nonsyndromic Leber Congenital Amaurosis and Senior-Loken Syndrome
نویسندگان
چکیده
منابع مشابه
Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.
OBJECTIVE To investigate whether mutations in NPHP5 can cause Leber congenital amaurosis (LCA) without early-onset renal disease. METHODS DNA samples from 276 individuals with nonsyndromic LCA were screened for variations in the NPHP5 gene. Each had been previously screened for mutations in 8 known LCA genes without identifying a disease-causing genotype. RESULTS Nine of the 276 LCA proband...
متن کاملSenior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian family
Senior-Loken syndrome (SLS) is a rare autosomal recessive disease characterized by nephronophthisis and early-onset retinal degeneration. We used a large Iranian family with SLS to establish a molecular genetic diagnosis. Following clinical evaluation, we undertook homozygosity mapping in two affected family members and mutational analysis in known SLS genes coinciding with regions of homozygos...
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متن کاملLeber congenital amaurosis
Key words Disease name /synonyms Definition / Diagnostic criteria Differential diagnosis Etiology Clinical description Diagnostic methods Epidemiology Genetic counseling Prenatal diagnosis Management including treatment Unresolved questions References Abstract Leber congenital amaurosis (LCA) is a retinal dystrophy and/or dysplasia of prenatal onset. About 10 to 20% of blind children are though...
متن کاملLe syndrome de Senior Loken
Le syndrome de Sénior Loken est une ciliopathie très rare à transmission autosomique récessive caractérisée par l'association d'une néphropathie tubulo-interstitielle chronique, la néphronophtise, avec une dystrophie rétinienne. M âgé de 7 ans, issu d'un mariage consanguin du premier degré était hospitalisé pour prise en charge d'une insuffisance rénale chronique. Sa sœur est en insuffisance ré...
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ژورنال
عنوان ژورنال: Archives of Ophthalmology
سال: 2011
ISSN: 0003-9950
DOI: 10.1001/archophthalmol.2010.330