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Albinism

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Mika Nakajima – One of the best experts on this subject based on the ideXlab platform.

  • ngs based targeted resequencing identified rare subtypes of Albinism providing accurate molecular diagnosis for japanese patients with Albinism
    Pigment Cell & Melanoma Research, 2019
    Co-Authors: Ken Okamura, Masahiro Hayashi, Yuko Abe, Michihiro Kono, Kimiko Nakajima, Yumi Aoyama, Chikako Nishigori, Hiroshi Ishimoto, Yuji Ishimatsu, Mika Nakajima

    Abstract:

    Albinism, which is commonly inherited as an autosomal recessive trait, is characterized by a reduction or absence of melanin in the eyes, skin, and hair. To date, more than 20 causal genes for Albinism have been identified; thus, the accurate diagnosis of Albinism requires next-generation sequencing (NGS). In this study, we analyzed 46 patients who tested negative for oculocutaneous Albinism (OCA)1-4 and Hermansky-Pudlak syndrome (HPS)1 based on conventional analysis, in addition to 28 new Japanese patients, using NGS-based targeted resequencing. We identified a genetic background for Albinism in 18 of the 46 patients (39%), who were previously tested negative according to the conventional analysis. In addition, we unveiled a genetic predisposition toward Albinism in 23 of the 28 new patients (82%). We identified six patients with rare subtypes of Albinism, including HPS3, HPS4, and HPS6, and found 12 novel pathological mutations in Albinism-related genes. Furthermore, most patients who were not diagnosed with Albinism by the NGS analysis showed mild manifestations of Albinism without apparent eye symptoms and harbored only one heterozygous mutation, occasionally in combination with skin-color associated gene variants.

  • NGS‐based targeted resequencing identified rare subtypes of Albinism: Providing accurate molecular diagnosis for Japanese patients with Albinism
    Pigment Cell & Melanoma Research, 2019
    Co-Authors: Ken Okamura, Masahiro Hayashi, Yuko Abe, Michihiro Kono, Kimiko Nakajima, Yumi Aoyama, Chikako Nishigori, Hiroshi Ishimoto, Yuji Ishimatsu, Mika Nakajima

    Abstract:

    Albinism, which is commonly inherited as an autosomal recessive trait, is characterized by a reduction or absence of melanin in the eyes, skin, and hair. To date, more than 20 causal genes for Albinism have been identified; thus, the accurate diagnosis of Albinism requires next-generation sequencing (NGS). In this study, we analyzed 46 patients who tested negative for oculocutaneous Albinism (OCA)1-4 and Hermansky-Pudlak syndrome (HPS)1 based on conventional analysis, in addition to 28 new Japanese patients, using NGS-based targeted resequencing. We identified a genetic background for Albinism in 18 of the 46 patients (39%), who were previously tested negative according to the conventional analysis. In addition, we unveiled a genetic predisposition toward Albinism in 23 of the 28 new patients (82%). We identified six patients with rare subtypes of Albinism, including HPS3, HPS4, and HPS6, and found 12 novel pathological mutations in Albinism-related genes. Furthermore, most patients who were not diagnosed with Albinism by the NGS analysis showed mild manifestations of Albinism without apparent eye symptoms and harbored only one heterozygous mutation, occasionally in combination with skin-color associated gene variants.

Richard A King – One of the best experts on this subject based on the ideXlab platform.

  • posterior staphyloma in oculocutaneous Albinism another possible cause of reduced visual acuity
    Journal of Aapos, 2015
    Co-Authors: Lisa A Schimmenti, Richard A King, Murray H Brilliant, Jennifer L. Anderson, Cheri Schoonveld, Gail C Summers

    Abstract:

    Posterior staphyloma is typically associated with myopic degeneration and has not been recognized as a cause of reduced visual acuity in Albinism. We report 3 cases of posterior staphyloma, each with oculocutaneous Albinism (OCA) defined by phenotype and genotype. Two cases are biological sisters with OCA type 2; one was myopic and the other was hyperopic. The third case involves a man with OCA associated with Hermansky-Pudlak syndrome (HPS-5). Staphyloma may be another cause of reduced visual acuity in Albinism, particularly with increasing age. It may occur in association with myopia or hyperopia.

  • the r402q tyrosinase variant does not cause autosomal recessive ocular Albinism
    American Journal of Medical Genetics Part A, 2009
    Co-Authors: William S. Oetting, Gail C Summers, James P. Fryer, Jacy Pietsch, Marcia J Brott, Sarah Savage, Richard A King

    Abstract:

    Mutations in the gene for tyrosinase, the key enzyme in melanin synthesis, are responsible for oculocutaneous Albinism type 1, and more than 100 mutations of this gene have been identified. The c.1205G > A variant of the tyrosinase gene (rs1126809) predicts p.R402Q and expression studies show thermolabile enzyme activity for the variant protein. The Q402 allele has been associated with autosomal recessive ocular Albinism when it is in trans with a tyrosinase gene mutation associated with oculocutaneous Albinism type 1. We have identified 12 families with oculocutaneous Albinism type 1 that exhibit segregation of the c.1205G > A variant with a known pathologic mutation on the homologous chromosome, and demonstrate no genetic association between autosomal recessive oculocutaneous Albinism and the Q402 variant. We conclude that the codon 402 variant of the tyrosinase gene is not associated with Albinism.

  • Segregation analysis of brown oculocutaneous Albinism.
    Clinical Genetics, 2008
    Co-Authors: Richard A King, Stephen S. Rich

    Abstract:

    The segregation of brown (type IV) oculocutaneous Albinism was analyzed in 18 Nigerian families. Analysis using the POINTER program showed that this type of oculocutaneous Albinism was inherited in an autosomal recessive pattern, with an estimated gene frequency of 0.025 +/- 0.007 in this population. The enzyme defect responsible for brown oculocutaneous Albinism is unknown.

Ken Okamura – One of the best experts on this subject based on the ideXlab platform.

  • ngs based targeted resequencing identified rare subtypes of Albinism providing accurate molecular diagnosis for japanese patients with Albinism
    Pigment Cell & Melanoma Research, 2019
    Co-Authors: Ken Okamura, Masahiro Hayashi, Yuko Abe, Michihiro Kono, Kimiko Nakajima, Yumi Aoyama, Chikako Nishigori, Hiroshi Ishimoto, Yuji Ishimatsu, Mika Nakajima

    Abstract:

    Albinism, which is commonly inherited as an autosomal recessive trait, is characterized by a reduction or absence of melanin in the eyes, skin, and hair. To date, more than 20 causal genes for Albinism have been identified; thus, the accurate diagnosis of Albinism requires next-generation sequencing (NGS). In this study, we analyzed 46 patients who tested negative for oculocutaneous Albinism (OCA)1-4 and Hermansky-Pudlak syndrome (HPS)1 based on conventional analysis, in addition to 28 new Japanese patients, using NGS-based targeted resequencing. We identified a genetic background for Albinism in 18 of the 46 patients (39%), who were previously tested negative according to the conventional analysis. In addition, we unveiled a genetic predisposition toward Albinism in 23 of the 28 new patients (82%). We identified six patients with rare subtypes of Albinism, including HPS3, HPS4, and HPS6, and found 12 novel pathological mutations in Albinism-related genes. Furthermore, most patients who were not diagnosed with Albinism by the NGS analysis showed mild manifestations of Albinism without apparent eye symptoms and harbored only one heterozygous mutation, occasionally in combination with skin-color associated gene variants.

  • NGS‐based targeted resequencing identified rare subtypes of Albinism: Providing accurate molecular diagnosis for Japanese patients with Albinism
    Pigment Cell & Melanoma Research, 2019
    Co-Authors: Ken Okamura, Masahiro Hayashi, Yuko Abe, Michihiro Kono, Kimiko Nakajima, Yumi Aoyama, Chikako Nishigori, Hiroshi Ishimoto, Yuji Ishimatsu, Mika Nakajima

    Abstract:

    Albinism, which is commonly inherited as an autosomal recessive trait, is characterized by a reduction or absence of melanin in the eyes, skin, and hair. To date, more than 20 causal genes for Albinism have been identified; thus, the accurate diagnosis of Albinism requires next-generation sequencing (NGS). In this study, we analyzed 46 patients who tested negative for oculocutaneous Albinism (OCA)1-4 and Hermansky-Pudlak syndrome (HPS)1 based on conventional analysis, in addition to 28 new Japanese patients, using NGS-based targeted resequencing. We identified a genetic background for Albinism in 18 of the 46 patients (39%), who were previously tested negative according to the conventional analysis. In addition, we unveiled a genetic predisposition toward Albinism in 23 of the 28 new patients (82%). We identified six patients with rare subtypes of Albinism, including HPS3, HPS4, and HPS6, and found 12 novel pathological mutations in Albinism-related genes. Furthermore, most patients who were not diagnosed with Albinism by the NGS analysis showed mild manifestations of Albinism without apparent eye symptoms and harbored only one heterozygous mutation, occasionally in combination with skin-color associated gene variants.