Mutational Analysis of SDCCAG8 in Bardet-Biedl Syndrome Patients with Renal Involvement and Absent Polydactyly

Autor:	Elise Heon, Gail Billingsley, Ajoy Vincent, Catherine Deveault
Rok vydání:	2012
Předmět:	Adult congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Visual acuity Adolescent DNA Mutational Analysis Visual Acuity Biology Fundus (eye) Compound heterozygosity Autoantigens Bardet–Biedl syndrome Internal medicine Electroretinography medicine Humans Fluorescein Angiography Child Bardet-Biedl Syndrome Genetics (clinical) Retrospective Studies Polydactyly medicine.diagnostic_test Fatty liver medicine.disease Fluorescein angiography Neoplasm Proteins Pedigree Ophthalmology Ciliopathy Phenotype Endocrinology Mutation Pediatrics Perinatology and Child Health Female Kidney Diseases medicine.symptom Tomography Optical Coherence
Zdroj:	Ophthalmic Genetics. 33:150-154
ISSN:	1744-5094 1381-6810
DOI:	10.3109/13816810.2012.689411
Popis:	To assess for SDCCAG8 mutations in Bardet-Biedl syndrome (BBS) subjects with renal involvement and no polydactyly, and to describe phenotypic characteristics of SDCCAG8-related disease.Five patients (from 4 pedigrees) with clinical diagnosis of BBS, who had retinal and renal involvement and no polydactyly, were assessed. Sequence analysis of SDCCAG8 was undertaken and a detailed clinical review of an affected sibship was performed.A sibship of East Indian origin who carried a putative clinical diagnosis of BBS had compound heterozygous mutations in SDCCAG8 (p.Thr482LysfsX12/p.Asp543AlafsX24). The renal involvement was early and required transplant in both cases. Both were short statured and had asthma since childhood. The younger sister also had non-alcoholic fatty liver disease. Visual acuity and central fields were preserved in the teenage years in both patients. The optical coherence tomography showed preservation of the retinal lamination at the fovea; fundus autofluorescence demonstrated a perifoveal ring of hyperfluorescence as commonly observed in other forms of retinitis pigmentosa. Full-field electroretinogram revealed rod function to be more severely affected than cone function in both cases.Our results and prior literature suggest that SDCCAG8 could play an important role in presumed BBS patients affected with severe kidney disease and absent polydactyly. This report enhances the phenotypic description of SDCCAG8-related disease.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d6704b51572e05dcba8140eab7d9953 https://doi.org/10.3109/13816810.2012.689411 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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