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Mutation Report for: R234X_human-ABHD5

R234X_human-ABHD5
Gene_Locus|human-ABHD5
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.R234X p.Arg234Ter c.700C>T in exon 5. A 42-year old patient with muscle weakness genital ichthyosiform erythroderma hearing loss bilateral subcapsular cataract. Compound heterozygote for p.H82R and p.R234X. A patient compound heterozygote for R280X in exon6 and R234X
    Kinetic parameters|none


    References:
      Title: Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome
      Takeichi T, Sugiura K, Tso S, Simpson MA, McGrath JA, Akiyama M
      Ref: J Dermatol Sci, 81:134, 2016 : PubMed

              

      Title: Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene
      Redaelli C, Coleman RA, Moro L, Dacou-Voutetakis C, Elsayed SM, Prati D, Colli A, Mela D, Colombo R, Tavian D
      Ref: Orphanet J Rare Dis, 5:33, 2010 : PubMed

              

      Title: Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease
      Schleinitz N, Fischer J, Sanchez A, Veit V, Harle JR, Pelissier JF
      Ref: Arch Dermatol, 141:798, 2005 : PubMed

              




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