Create issue ticket

348 Possible Causes for 5, B3GALTL,, G A,, IVS5

Show results in: 日本語

  • Congenital Cataract

    Targeted sequencing of two candidate genes within the linkage interval (PAX6 and B3GALTL) as well as mtDNA genome sequencing did not reveal any putative mutations. 2012 John[ncbi.nlm.nih.gov] CONCLUSIONS: The novel mutation (c.2345 G   C) of the COL4A1 gene is the first report of a non-syndromic, autosomal dominant congenital cataract, thereby highlighting the[ncbi.nlm.nih.gov] Visual axis opacification required surgery in 5 primary group eyes and 2 secondary group eyes before IOL implantation.[ncbi.nlm.nih.gov] Molecular analysis depicted 3 novel mutations and the previously reported IVS5 1G T mutation. Conclusions Our study broadens the clinical spectrum of HCC.[jamanetwork.com]

  • Rieger Syndrome

    […] dominant Peters anomaly OMIM 604229 CYP1B1 OMIM 601771 Autosomal recessiv Peters anomaly OMIM 604229 PAX6 OMIM 607108 Autosomal dominant Peters-plus syndrom OMIM 261540 B3GALTL[rigshospitalet.dk] 5' (ss) of exon 4 (IVS4 5G C), and a previously reported A G substitution at position -11 of 3'ss of exon 5 (IVS5-11A G).[ncbi.nlm.nih.gov] The Peters-plus syndrome is a specific malformation complex due to involvement of the B3GALTL gene, which is characterized specifically by short stature (skeletal dysplasia[glaucomatoday.com] The strength of the 3’ss may not be altered by the IVS5-11A G mutation, but a new “AG” dinucleotide was produced.[ijo.cn]

  • Axenfeld-Rieger Syndrome Type 3

    The Peters-plus syndrome is a specific malformation complex due to involvement of the B3GALTL gene, which is characterized specifically by short stature (skeletal dysplasia[glaucomatoday.com] A G C mutation 5 nt downstream of the 5' splice site of exon 4 results predominantly in intron retention The G C mutation at the 5 position of the 5'ss of exon 4, IVS4 5G[link.springer.com] ) genetic dna test for Malformation and Retardation Syndromes testing done with next gene sequencing NGS sample type Blood or DNA and reporing time is 4 to 5 weeks How to[dnalabsuae.com] الصفحة 31 - G. Horsburgh, J. Cohen, CM Hetherington, G. Fisher, and MF Lyon. 1986.[books.google.com]

  • Fucosidosis

    In this paper we present evidence that a homozygous G-- A transition in the first position of the 5' splice site of intron 5 of FUCA1 is the disease causing mutation in a[ncbi.nlm.nih.gov] The third mutation, A860-- G, changed the codon CAG for Gln-281 to the codon (CGG) for Arg and was heterozygous (A and G) in the patients but homozygous in their father. alpha-L-Fucosidase[ncbi.nlm.nih.gov] They were a 10 bp deletion in exon 1 (E113fs), a 1 bp deletion at position -2 of intron 2 (S216fs), a g-- a transition at IVS5 1, point mutations W183X and N329Y in exons[ncbi.nlm.nih.gov] This deletion results in a frameshift mutation (P141fs) and obliterates a unique Eael site. (5) A homozygous single base (C) deletion in exon 5 in a Portuguese patient, which[ncbi.nlm.nih.gov]

    Missing: B3GALTL
  • Congenital Myasthenic Syndrome

    The Hungarian and Russian patients were heteroallelic carriers of the same mutation epsilon(IVS7-2A/G) and of a frameshifting mutation epsilon 70insG and epsilon 1293insG,[ncbi.nlm.nih.gov] Aharoni S 1 , Sadeh M 2 , Shapira Y 3 , Edvardson S 3 , Daana M 3 , Dor-Wollman T 3 , Mimouni-Bloch A 4 , Halevy A 5 , Cohen R 5 , Sagie L 6 , Argov Z 7 , Rabie M 5 , Spiegel[ncbi.nlm.nih.gov] The molecular consequences of a novel intronic base alteration (CHRNE IVS5-16GA) remote from the splice acceptor site were investigated in vivo and in vitro.[ncbi.nlm.nih.gov] Luciferase reporter assays show that both -38A-- G and -27C-- G attenuate reporter gene expression in C2C12 myotubes, and that -27C-- G additionally attenuates reporter gene[ncbi.nlm.nih.gov]

    Missing: B3GALTL
  • Congenital Myasthenic Syndrome

    Aharoni S 1 , Sadeh M 2 , Shapira Y 3 , Edvardson S 3 , Daana M 3 , Dor-Wollman T 3 , Mimouni-Bloch A 4 , Halevy A 5 , Cohen R 5 , Sagie L 6 , Argov Z 7 , Rabie M 5 , Spiegel[ncbi.nlm.nih.gov] The Hungarian and Russian patients were heteroallelic carriers of the same mutation epsilon(IVS7-2A/G) and of a frameshifting mutation epsilon 70insG and epsilon 1293insG,[ncbi.nlm.nih.gov] The molecular consequences of a novel intronic base alteration (CHRNE IVS5-16GA) remote from the splice acceptor site were investigated in vivo and in vitro.[ncbi.nlm.nih.gov] Gallenmüller C 1 , Müller-Felber W 2 , Dusl M 1 , Stucka R 1 , Guergueltcheva V 3 , Blaschek A 2 , von der Hagen M 4 , Huebner A 4 , Müller JS 5 , Lochmüller H 5 , Abicht[ncbi.nlm.nih.gov]

    Missing: B3GALTL
  • Exfoliation Syndrome

    Similarly, there was no involvement of the XFS/XFG-associated haplotypes, 'G-G' (p 0.643; [OR 1.08, 95%CI, 0.59-1.97]) and 'T-G' (p 0.266; [OR 1.35, 95%CI, 0.70-2.60]), with[ncbi.nlm.nih.gov] AIM: To examine the age- and gender-specific prevalent and 5-year incident risk of developing exfoliation syndrome (XFS).[ncbi.nlm.nih.gov] […] above-mentioned SNPs, 12 other variations were also observed in these patients (G240G, D292D, A320A, V385V, rs2304719, IVS3 23C T, IVS3-155G A, IVS3-101G A, IVS4 49G A, rs2304721, IVS5[ncbi.nlm.nih.gov] Eye (Lond). 2017 May;31(5):698-707. doi: 10.1038/eye.2016.312. Epub 2017 Jan 13.[ncbi.nlm.nih.gov]

    Missing: B3GALTL
  • Hereditary Breast Cancer

    .-1060A G; HBC GG 15, Control TT 8; OR 5.67, CI95% 2.26-14.20; p 0.0001).[ncbi.nlm.nih.gov] RS 2 , Sabato CS 1 , Viana DV 2 , Mauad EC 2, 6 , Scapulatempo-Neto C 1, 5, 7 , Arun B 8 , Reis RM 1, 2, 5, 9, 10 , Palmero EI 1, 2, 5, 11 .[ncbi.nlm.nih.gov] 799delTT (916 delTT), c.3331_3334delCAAG (3450 delCAAG), c.5266dupC (5382 insC) and one splice site mutation which seems to be specific to the Tunisian population: c.212 2insG (IVS5[ncbi.nlm.nih.gov] SUSAN G.[ww5.komen.org]

    Missing: B3GALTL
  • Osteogenesis Imperfecta

    Molecular analysis of the newborn revealed a novel mutation at position c.560 (c.560 G T) of the exon 12 in the COL1A2 gene; which lead to the glycine modification with valine[ncbi.nlm.nih.gov] Med Biol Eng Comput. 2017 Apr;55(4):549-560. doi: 10.1007/s11517-016-1526-5. Epub 2016 Jun 17.[ncbi.nlm.nih.gov] Analysis of COL1A1 gene identified a splicing mutation (c.471 1G A, also termed IVS5 1G A) that converted the 5' end of intron 5 from GT to AT.[ncbi.nlm.nih.gov] Total lean mass increased more in the WBV group [ 1119 g ( 224 to 1744)] compared with controls [ 635 g (-951 to 1006)], P 0.01, without improving mobility, muscle function[ncbi.nlm.nih.gov]

    Missing: B3GALTL
  • Glycogen Storage Disease

    Confirmation by Sanger sequencing showed the same mutation in all 5 patients, and 5 family members were found to be carriers.[ncbi.nlm.nih.gov] Together these cases suggest that GSD type 1b patients with prolonged G-CSF exposure may be at an increased risk of MDS/AML states associated with G-CSF-induced shortened[ncbi.nlm.nih.gov] The novel mutations include one nonsense (c.1461G A, p.W487X), three splicing (c.293 4_293 6delAGT in IVS4, c.460 1G T in IVS5, c.2682-8A G in IVS21) and one missense mutation[ncbi.nlm.nih.gov] , Labrune P 8 , Hogrel JY 5 .[ncbi.nlm.nih.gov]

    Missing: B3GALTL