Homozygous Variant inARL3Causes Autosomal Recessive Cone Rod Dystrophy
نویسندگان
چکیده
منابع مشابه
Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy
BACKGROUND Cone-rod dystrophy is a retinal dystrophy with early loss of cone photoreceptors and a parallel or subsequent loss of rod photoreceptors. It may be syndromic, but most forms are non-syndromic with autosomal dominant, autosomal recessive or X-linked recessive inheritance. METHODS AND RESULTS We identified a small consanguineous family with six patients with cone-rod dystrophy from t...
متن کاملAn autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta.
T he cone2rod dystrophies (CORDs) are a clinically and genetically heterogeneous group of progressive retinal disorders. They have similarities to the rod2cone or retinitis pigmentosa-type dystrophies, but can usually be distinguished on the basis of clinical findings and electrophysiology. The CORDs usually present with cone dysfunction related symptoms, including photophobia, poor colour visi...
متن کاملMutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.
The majority of the genetic causes of autosomal-recessive (ar) cone-rod dystrophy (CRD) are currently unknown. A combined approach of homozygosity mapping and exome sequencing revealed a homozygous nonsense mutation (c.565C>T [p.Glu189*]) in RAB28 in a German family with three siblings with arCRD. Another homozygous nonsense mutation (c.409C>T [p.Arg137*]) was identified in a family of Moroccan...
متن کاملCERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.
PURPOSE To define the phenotype of the retinal degeneration associated with mutations in the CERKL gene. METHODS Six patients (ages, 26-54 years) from three unrelated families with CERKL mutations were studied clinically and by electroretinography, kinetic, and chromatic static perimetry, autofluorescence (AF) imaging, and optical coherence tomography (OCT). RESULTS Three siblings were homo...
متن کاملDisruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c.199_201del [p.Gln67del] and c.810+1G>T) in an unrelated person with cone-rod dystrophy. Upon overexpression of POC1B in human TERT-immortalized ...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2019
ISSN: 1552-5783
DOI: 10.1167/iovs.19-27263