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ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Volume 36 Issue 7
Jul.  2020
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Congenital hepatic fibrosis with retinitis pigmentosa caused by mutations of the TMEM67 gene and CNGB1 gene: A case report

DOI: 10.3969/j.issn.1001-5256.2020.07.029
  • Published Date: 2020-07-20
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    [2]ALI MU,RAHMAN M,CAO J,et al.Genetic characterization and disease mechanism of retinitis pigmentosa;current scenario[J].3Biotech,2017,7(4):251.
    [3]FU Q,WANG F,WANG H,et al.Next-generation sequencingbased molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa[J].Invest Ophthalmol Vis Sci,2013,54(6):4158-4166.
    [4]GREEN RC,BERG JS,GRODY WW,et al.CORRIGENDUM:AC-MG recommendations for reporting of incidental findings in clinical exome and genome sequencing[J].Genet Med,2017,19(5):606.
    [5]KERR DN,HARRISON CV,SHERLOCK S.Congenital hepatic fibrosis[J].Q J Med,1961,30:91-117.
    [6]VOGEL I,OTT P,LILDBALLE D,et al.Isolated congenital hepatic fibrosis associated with TMEM67 mutations:Report of a new genotype-phenotype relationship[J].Clin Case Rep,2017,5(7):1098-1102.
    [7]YU F,RAN J,ZHOU J.Ciliopathies:Does HDAC6 represent a new therapeutic target?[J].Trends Pharmacol Sci,2016,37(2):114-119.
    [8]OTTO EA,TORY K,ATTANASIO M,et al.Hypomorphic mutations in meckelin(MKS3/TMEM67)cause nephronophthisis with liver fibrosis(NPHP11)[J].J Med Genet,2009,46(10):663-670.
    [9]HUYNH JM,GALINDO M,LAUKAITIS CM.Missense variants in TMEM67 in a patient with Joubert syndrome[J].Clin Case Rep,2018,6(11):2189-2192.
    [10]JIANG C,ZHOU Q,JIN M,et al.Congenital hepatic fibrosis with polycystic kidney disease:Two case reports[J].Medicine(Baltimore),2019,98(20):e15600.
    [11]ABDELHAMED ZA,ABDELMOTTALEB DI,EL-ASRAG ME,et al.The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5[J].Sci Rep,2019,9(1):5446.
    [12]XIANG Q,GUO Y,CAO Y,et al.Identification of a CNGB1 frameshift mutation in a Han Chinese family with retinitis pigmentosa[J].Optom Vis Sci,2018,95(12):1155-1161.
    [13]FRADIN M,COLIN E,HANNOUCHE-BARED D,et al.Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1gene involved in retinitis pigmentosa 45[J].Ophthalmic Genet,2016,37(3):357-359.
    [14]DAWE HR,SMITH UM,CULLINANE AR,et al.The MeckelGruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation[J].Hum Mol Genet,2007,16(2):173-186.
    [15]PAWAR S,ZANWAR V,MOHITE A,et al.A family of congenital hepatic fibrosis and atypical retinitis pigmentosa[J].Clin Pract,2015,5(4):792.
    [16]PERDICES L,FUENTES-BROTO L,SEGURA F,et al.Hepatic oxidative stress in pigmented P23H rhodopsin transgenic rats with progressive retinal degeneration[J].Free Radic Biol Med,2018,124:550-557.
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