Advertisement
Journal of Investigative Dermatology Home

Spectrum Analysis of Albinism Genes in A Large Cohort of Chinese Index Patients

  • Author Footnotes
    # These authors contributed equally to this work.
    Aihua Wei
    Footnotes
    # These authors contributed equally to this work.
    Affiliations
    Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China
    Search for articles by this author
  • Author Footnotes
    # These authors contributed equally to this work.
    Tianjiao Zhang
    Footnotes
    # These authors contributed equally to this work.
    Affiliations
    Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China
    Search for articles by this author
  • Yefeng Yuan
    Affiliations
    Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Rare Disease Center, National Center for Children's Health; Beijing Children's Hospital, Capital Medical University, Beijing 100045, China
    Search for articles by this author
  • Zhan Qi
    Affiliations
    Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Rare Disease Center, National Center for Children's Health; Beijing Children's Hospital, Capital Medical University, Beijing 100045, China
    Search for articles by this author
  • Dayong Bai
    Affiliations
    Department of Ophthalmology, Beijing Children’s Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China
    Search for articles by this author
  • Yingzi Zhang
    Affiliations
    Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China
    Search for articles by this author
  • Yunlan Zhang
    Affiliations
    Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China
    Search for articles by this author
  • Teng Liu
    Affiliations
    Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China
    Search for articles by this author
  • Qiaorong Huang
    Affiliations
    Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China
    Search for articles by this author
  • Xiumin Yang
    Affiliations
    Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China
    Search for articles by this author
  • Wei Li
    Correspondence
    Correspondence to: Dr. Wei Li, Beijing Children’s Hospital, Capital Medical University, Beijing 100045, China. Tel: +86-10-5961-6628, Fax: +86-10-5971-8699.
    Affiliations
    Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Rare Disease Center, National Center for Children's Health; Beijing Children's Hospital, Capital Medical University, Beijing 100045, China
    Search for articles by this author
  • Author Footnotes
    # These authors contributed equally to this work.
Published:November 24, 2021DOI:https://doi.org/10.1016/j.jid.2021.11.014
      Albinism is a genetically heterogeneous trait with a prevalence of 1:17,000 worldwide. At least 22 genes have been identified as the causative genes of albinism in humans. These involved 10 genes in non-syndromic albinism and 12 syndromic albinism genes (
      • Fernandez A.
      • Hayashi M.
      • Garrido G.
      • Mentero A.
      • Guardia A.
      • Suzuki T.
      • et al.
      Genetics of non-syndromic and syndromic oculocutaneous albinism in human and mouse.
      ). As the disease gene mutation is population-specific, it is important to investigate the spectrum of disease gene and allele distribution in the Chinese population for the precise intervention of this disease in their early lives.
      To read this article in full you will need to make a payment
      Purchase one-time access
      Society Members (SID/ESDR), remember to log in for access.
      Subscribe to Journal of Investigative Dermatology
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      REFERENCES

        • Fernandez A.
        • Hayashi M.
        • Garrido G.
        • Mentero A.
        • Guardia A.
        • Suzuki T.
        • et al.
        Genetics of non-syndromic and syndromic oculocutaneous albinism in human and mouse.
        Pigment Cell Melanoma Res. 2021; 34: 786-799
        • Inagaki K.
        • Suzuki T.
        • Ito S.
        • Suzuki N.
        • Fukai K.
        • Horiuchi T.
        • et al.
        OCA4: evidence for a founder effect for the p.D157N mutation of the MATP gene in Japanese and Korean.
        Pigment Cell Res. 2005; 18: 385-388
        • Lasseaux E.
        • Plaisant C.
        • Michaud V.
        • Pennamen P.
        • Trimouille A.
        • Gaston L.
        • et al.
        Molecular characterization of a series of 990 index patients with albinism.
        Pigment Cell Melanoma Res. 2018; 31: 466-474
        • Liu T.
        • Yuan Y.
        • Bai D.
        • Qi Z.
        • Yang L.
        • Zhang T.
        • et al.
        Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients.
        Pigment Cell Melanoma Res. 2021; 34: 111-121
        • Ma J.
        • Zhang Z.
        • Yang L.
        • Kriston-Vizi J.
        • Cutler D.F.
        • Li W.
        BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells.
        J Genet Genomics. 2016; 43: 686-693
        • Okamura K.
        • Suzuki T.
        Current landscape of Oculocutaneous Albinism in Japan.
        Pigment Cell Melanoma Res. 2020; 34: 190-203
        • Wei A.
        • Wang Y.
        • Long Y.
        • Wang Y.
        • Guo X.
        • Zhou Z.
        • et al.
        A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
        J Invest Dermatol. 2010; 130: 716-724