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Mutation Report for: C246S_human-LIPH

C246S_human-LIPH
Gene_Locus|human-LIPH
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.C246S Cys246Ser c.736T>A exon6
    Kinetic parameters|none


    References:
      Title: Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair
      Asano N, Okita T, Yasuno S, Yamaguchi M, Kashiwagi K, Kanekura T, Shimomura Y
      Ref: J Dermatol, 46:e19, 2019 : PubMed

              

      Title: Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
      Mizukami Y, Hayashi R, Tsuruta D, Shimomura Y, Sugawara K
      Ref: J Dermatol, 45:613, 2018 : PubMed

              

      Title: Case of autosomal recessive woolly hair/hypotrichosis with atopic dermatitis
      Itoh E, Nakahara T, Furumura M, Furue M, Shimomura Y
      Ref: J Dermatol, 44:1185, 2017 : PubMed

              

      Title: Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>A LIPH mutation
      Kinoshita-Ise M, Kubo A, Sasaki T, Umegaki-Arao N, Amagai M, Ohyama M
      Ref: Br J Dermatol, 176:138, 2017 : PubMed

              

      Title: Mutational analysis of 29 patients with autosomal-recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal-recessive woolly hair and hypotrichosis in Japan
      Takeichi T, Tanahashi K, Taki T, Kono M, Sugiura K, Akiyama M
      Ref: Br J Dermatol, 177:290, 2017 : PubMed

              

      Title: Novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
      Matsuo Y, Tanaka A, Shimomura Y, Hide M
      Ref: J Dermatol, 43:1384, 2016 : PubMed

              

      Title: Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis
      Ito T, Shimomura Y, Hayashi R, Tokura Y
      Ref: J Dermatol, 42:752, 2015 : PubMed

              

      Title: A homozygous mutation, c.736T>A (p.C246S), in LIPH gene in a patient manifesting woolly hair, hypotrichosis, hearing difficulty, cleft palate and amblyopia
      Hamada K, Kubo R, Nishio D, Nakamura M
      Ref: Eur J Dermatol, 24:272, 2014 : PubMed

              

      Title: Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair
      Hayashi R, Inui S, Farooq M, Ito M, Shimomura Y
      Ref: J Dermatol, 41:890, 2014 : PubMed

              

      Title: Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations
      Tanahashi K, Sugiura K, Kono M, Takama H, Hamajima N, Akiyama M
      Ref: PLoS ONE, 9:e89261, 2014 : PubMed

              

      Title: Two cases of autosomal recessive woolly hair with LIPH gene mutations
      Harada K, Inozume T, Kawamura T, Shibagaki N, Kinoshita T, Deguchi N, Shimada S
      Ref: Int J Dermatol, 52:572, 2013 : PubMed

              

      Title: A case of autosomal recessive woolly hair/hypotrichosis with alternation in severity: deterioration and improvement with age
      Matsuno N, Kunisada M, Kanki H, Simomura Y, Nishigori C
      Ref: Case Rep Dermatol, 5:363, 2013 : PubMed

              

      Title: Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood
      Tanahashi K, Sugiura K, Takeichi T, Takama H, Shinkuma S, Shimizu H, Akiyama M
      Ref: J Eur Acad Dermatol Venereol, 27:1182, 2013 : PubMed

              

      Title: Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
      Yoshimasu T, Kanazawa N, Kambe N, Nakamura M, Furukawa F
      Ref: J Dermatol, 38:900, 2011 : PubMed

              

      Title: Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis
      Shinkuma S, Akiyama M, Inoue A, Aoki J, Natsuga K, Nomura T, Arita K, Abe R, Ito K and Shimizu H <6 more author(s)>
      Ref: Hum Mutat, 31:602, 2010 : PubMed

              

      Title: Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis
      Shimomura Y, Ito M, Christiano AM
      Ref: J Dermatol Sci, 56:205, 2009 : PubMed

              




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