Gene Locus : human-ABHD5
Mode of mutation : Natural mutant
Disease : Chanarin-Dorfman syndrome
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : often refered as N209X. p.R199QfsX10 p.Arg199GlnfsTer10 c.594dup c.594insC homozygous 594insC mutation in exon 4. Frameshift and premature termination at amino acid 209 fsN209X N209Xfs rs387906335 RCV000005681
| Title : Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome - Tavian_2021_Eur.J.Transl.Myol__ |
| Author(s) : Tavian D , Durdu M , Angelini C , Torre E , Missaglia S |
| Ref : Eur J Transl Myol , : , 2021 |
| Abstract : Tavian_2021_Eur.J.Transl.Myol__ |
| ESTHER : Tavian_2021_Eur.J.Transl.Myol__ |
| PubMedSearch : Tavian_2021_Eur.J.Transl.Myol__ |
| PubMedID: 33985321 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents - Durdu_2018_BMC.Med.Genet_19_88 |
| Author(s) : Durdu M , Missaglia S , Moro L , Tavian D |
| Ref : BMC Med Genet , 19 :88 , 2018 |
| Abstract : Durdu_2018_BMC.Med.Genet_19_88 |
| ESTHER : Durdu_2018_BMC.Med.Genet_19_88 |
| PubMedSearch : Durdu_2018_BMC.Med.Genet_19_88 |
| PubMedID: 29843625 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Chanarin-Dorfman syndrome in three siblings in a non-consanguineous family - |
| Author(s) : Gomez-Moyano E , Godoy-Diaz DJ , Ponce-Verdugo L , Sanz-Trelles A , Vera-Casano A , Sierra-Salinas C |
| Ref : J Eur Acad Dermatol Venereol , 30 :157 , 2016 |
| PubMedID: 25087691 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Cerebral lipid accumulation in Chanarin-Dorfman Syndrome - Huigen_2015_Mol.Genet.Metab_114_51 |
| Author(s) : Huigen MC , van der Graaf M , Morava E , Dassel AC , van Steensel MA , Seyger MM , Wevers RA , Willemsen MA |
| Ref : Mol Genet Metab , 114 :51 , 2015 |
| Abstract : Huigen_2015_Mol.Genet.Metab_114_51 |
| ESTHER : Huigen_2015_Mol.Genet.Metab_114_51 |
| PubMedSearch : Huigen_2015_Mol.Genet.Metab_114_51 |
| PubMedID: 25468645 |
| Title : Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation - Nur_2015_Eur.J.Med.Genet_58_238 |
| Author(s) : Nur BG , Gencpinar P , Yuzbasioglu A , Emre SD , Mihci E |
| Ref : Eur Journal of Medical Genetics , 58 :238 , 2015 |
| Abstract : Nur_2015_Eur.J.Med.Genet_58_238 |
| ESTHER : Nur_2015_Eur.J.Med.Genet_58_238 |
| PubMedSearch : Nur_2015_Eur.J.Med.Genet_58_238 |
| PubMedID: 25682902 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Chanarin-dorfman syndrome with multi-system involvement in two siblings - Arslansoyu Camlar_2013_Turk.J.Haematol_30_72 |
| Author(s) : Arslansoyu Camlar S , Gencpinar P , Makay B , Yuzbasioglu A , Arslan N , Emre Dokmeci S , Anal O , Kose G |
| Ref : Turk J Haematol , 30 :72 , 2013 |
| Abstract : Arslansoyu Camlar_2013_Turk.J.Haematol_30_72 |
| ESTHER : Arslansoyu Camlar_2013_Turk.J.Haematol_30_72 |
| PubMedSearch : Arslansoyu Camlar_2013_Turk.J.Haematol_30_72 |
| PubMedID: 24385758 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation - Cakmak_2012_Clin.Res.Hepatol.Gastroenterol_36_e34 |
| Author(s) : Cakmak E , Alagozlu H , Yonem O , Ataseven H , Citli S , Ozer H |
| Ref : Clin Res Hepatol Gastroenterol , 36 :e34 , 2012 |
| Abstract : Cakmak_2012_Clin.Res.Hepatol.Gastroenterol_36_e34 |
| ESTHER : Cakmak_2012_Clin.Res.Hepatol.Gastroenterol_36_e34 |
| PubMedSearch : Cakmak_2012_Clin.Res.Hepatol.Gastroenterol_36_e34 |
| PubMedID: 22245374 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene - Emre_2010_Eur.J.Med.Genet_53_141 |
| Author(s) : Emre S , Unver N , Evans SE , Yuzbasioglu A , Gurakan F , Gumruk F , Karaduman A |
| Ref : Eur Journal of Medical Genetics , 53 :141 , 2010 |
| Abstract : Emre_2010_Eur.J.Med.Genet_53_141 |
| ESTHER : Emre_2010_Eur.J.Med.Genet_53_141 |
| PubMedSearch : Emre_2010_Eur.J.Med.Genet_53_141 |
| PubMedID: 20307695 |
| Title : Mutations in CGI-58, the gene encoding a new protein of the esterase\/lipase\/thioesterase subfamily, in Chanarin-Dorfman syndrome - Lefevre_2001_Am.J.Hum.Genet_69_1002 |
| Author(s) : Lefevre C , Jobard F , Caux F , Bouadjar B , Karaduman A , Heilig R , Lakhdar H , Wollenberg A , Verret JL , Weissenbach J , Ozguc M , Lathrop M , Prud'homme JF , Fischer J |
| Ref : American Journal of Human Genetics , 69 :1002 , 2001 |
| Abstract : Lefevre_2001_Am.J.Hum.Genet_69_1002 |
| ESTHER : Lefevre_2001_Am.J.Hum.Genet_69_1002 |
| PubMedSearch : Lefevre_2001_Am.J.Hum.Genet_69_1002 |
| PubMedID: 11590543 |
| Gene_locus related to this paper: human-ABHD5 |