OR11-002 - Mutations in MVK cause non-syndromic RP
نویسندگان
چکیده
منابع مشابه
OR11-002 - Mutations in MVK cause non-syndromic RP
Methods After detailed clinical characterization including funduscopy and optic coherence tomography, exome sequencing analysis was performed in a proband of Dutch origin with non-syndromic autosomal recessive RP. Identified mutations were tested for segregation within the family and in a large cohort of genetically unsolved RP patients. Upon identification of mutations in MVK, encoding mevalon...
متن کاملPW02-002 - Single MVK mutation and recurrent fevers
Results 31 pts with mutations in MVK were evaluated: 22 had 2 mutations (21 with V377I and 1 other mutation; 1 with V203A/H380R), 9 had only 1 mutation after testing the whole gene (8 with V377I, 1 with I268V). The carrier frequency of V377I in our control Caucasian population is 0.3% (2/739). In contrast, in 344 independent cases of recurrent fever submitted for MVK testing, 8 bore a single co...
متن کاملRecessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
Autosomal-recessive optic neuropathies are rare blinding conditions related to retinal ganglion cell (RGC) and optic-nerve degeneration, for which only mutations in TMEM126A and ACO2 are known. In four families with early-onset recessive optic neuropathy, we identified mutations in RTN4IP1, which encodes a mitochondrial ubiquinol oxydo-reductase. RTN4IP1 is a partner of RTN4 (also known as NOGO...
متن کاملMissense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa
BACKGROUND Recent findings suggesting that Abelson helper integration site 1 (AHI1) is involved in non-syndromic retinal disease have been debated, as the functional significance of identified missense variants was uncertain. We assessed whether AHI1 variants cause non-syndromic retinitis pigmentosa (RP). METHODS Exome sequencing was performed in three probands with RP. The effects of the ide...
متن کاملEvaluation of GJB2 and GJB6 Mutations in Patients Afflicted with Non-syndromic Hearing Loss
Background Non-syndromic hearing loss (NSHL) is assumed as one of the highly prevalent congenital defects in the world. In this regard, gap junction protein beta 2(GJB2), and gap junction protein beta 6(GJB6) mutations are considered as the leading congenital causes of deafness. The present study aimed to assess the prevalence of GJB2 and GJB6 mutations in NSHL cases. Materials and Methods This...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a191