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 :
S258RfsX21 Ser258ArgfsTer21 c.773-1G> the splice-site mutation resulted predominantly in the skipping of the entire exon 6, leading to premature translation termination. A 36-year-old Tunisian man with fine, gray to brown scales on his body (that were apparent since birth) congenital ichthyosis, pruritus and hypohidrosis but no mental retardation
| Title : Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene - Louhichi_2019_Orphanet.J.Rare.Dis_14_112 |
| Author(s) : Louhichi N , Bahloul E , Marrakchi S , Othman HB , Triki C , Aloulou K , Trabelsi L , Mahfouth N , Ayadi-Mnif Z , Keskes L , Fakhfakh F , Turki H |
| Ref : Orphanet J Rare Dis , 14 :112 , 2019 |
| Abstract : |
| PubMedSearch : Louhichi_2019_Orphanet.J.Rare.Dis_14_112 |
| PubMedID: 31118107 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6 - |
| Author(s) : Sugiura K , Suga Y , Akiyama M |
| Ref : J Dermatol Sci , 75 :199 , 2014 |
| PubMedID: 24996587 |
| Gene_locus related to this paper: human-ABHD5 |