A Coding Variant in the Gene Bardet - Biedl Syndrome 4 ( BBS 4 ) is Associated with 1 a Novel Form of Canine Progressive Retinal Atrophy

نویسندگان

  • Tracy Chew
  • Bianca Haase
  • Roslyn Bathgate
  • Cali E. Willet
  • Maria K. Kaukonen
  • Lisa J. Mascord
  • Hannes T. Lohi
  • Claire M. Wade
چکیده

A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) is Associated with 1 a Novel Form of Canine Progressive Retinal Atrophy 2 Tracy Chew, *, 1 Bianca Haase, † Roslyn Bathgate, † Cali E. Willet, ‡ Maria K. Kaukonen, 3 §, **, †† Lisa J. Mascord, * Hannes T. Lohi, §, **, †† Claire M. Wade *, 1 4 5 Author Affiliations 6 School of Life and Environmental Sciences, Faculty of Science, University of Sydney, 7 Sydney NSW Australia, Sydney School of Veterinary Science, Faculty of Science, 8 University of Sydney, Sydney NSW Australia, Sydney Informatics Hub, Core Research 9 Facilities, University of Sydney, Sydney NSW Australia, Department of Veterinary 10 Biosciences, University of Helsinki, Finland, Research Programs Unit, Molecular 11 Neurology, University of Helsinki, Finland, and Folkhälsan Institute of Genetics, 12 Finland 13 14 Reference numbers 15 Genotyping array data is available at NCBI’s Gene Expression Omnibus (accession 16 number GSE87642). Whole genome sequencing data is available at NCBI’s Sequence 17 Read Archive (BioProject accession number PRJNA344694). 18 19 20 G3: Genes|Genomes|Genetics Early Online, published on May 22, 2017 as doi:10.1534/g3.117.043109

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy

Progressive retinal atrophy is a common cause of blindness in the dog and affects >100 breeds. It is characterized by gradual vision loss that occurs due to the degeneration of photoreceptor cells in the retina. Similar to the human counterpart retinitis pigmentosa, the canine disorder is clinically and genetically heterogeneous and the underlying cause remains unknown for many cases. We use a ...

متن کامل

Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians.

Bardet-Biedl syndrome (BBS) is a rare developmental disorder with the cardinal features of abdominal obesity, retinopathy, polydactyly, cognitive impairment, renal and cardiac anomalies, hypertension, and diabetes. BBS is genetically heterogeneous, with nine genes identified to date and evidence for additional loci. In this study, we performed mutation analysis of the coding and conserved regio...

متن کامل

Bardet-Biedl Syndrome with End Stage Renal Disease

Bardet-Biedl syndrome (BBS) is one of the rare autosomal recessive disorders that affect multiple organs of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. We present a case of BBS with features of hypogonadism and features such as marked central obesity, retinitis pigmentosa, polydactyly, renal abnormalities and mental ...

متن کامل

Ectopic Expression of Human BBS4 Can Rescue Bardet-Biedl Syndrome Phenotypes in Bbs4 Null Mice

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by obesity, retinal degeneration, polydactyly, hypogenitalism and renal defects. Recent findings have associated the etiology of the disease with cilia, and BBS proteins have been implicated in trafficking various ciliary cargo proteins. To date, 17 different genes have been reported for BBS am...

متن کامل

Retinal morphology in patients with BBS1 and BBS10 related Bardet–Biedl Syndrome evaluated by Fourier-domain optical coherence tomography

Retinal dystrophy in Bardet-Biedl Syndrome (BBS) is caused by defective genes that are expressed within ciliated cells such as photoreceptors. The purpose of this study was to characterize and compare the retinal structure and lamination of two groups of patients, carrying mutations in BBS1 or BBS10. Eight patients with BBS (ages 11.9-28.5 years) and mutations in BBS1 (4/8) or BBS10 (4/8) were ...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

عنوان ژورنال:

دوره   شماره 

صفحات  -

تاریخ انتشار 2017