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Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients.
Morimoto, Kozo; Hijikata, Minako; Zariwala, Maimoona A; Nykamp, Keith; Inaba, Atsushi; Guo, Tz-Chun; Yamada, Hiroyuki; Truty, Rebecca; Sasaki, Yuka; Ohta, Ken; Kudoh, Shoji; Leigh, Margaret W; Knowles, Michael R; Keicho, Naoto.
Afiliação
  • Morimoto K; Fukujuji Hospital, Japan Anti-Tuberculosis Association, Tokyo, Japan.
  • Hijikata M; The Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Tokyo, Japan.
  • Zariwala MA; The Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Tokyo, Japan.
  • Nykamp K; Department of Pathology and Laboratory Medicine and Marsico Lung Institute, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
  • Inaba A; Invitae, San Francisco, California.
  • Guo TC; The Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Tokyo, Japan.
  • Yamada H; The Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Tokyo, Japan.
  • Truty R; The Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Tokyo, Japan.
  • Sasaki Y; Invitae, San Francisco, California.
  • Ohta K; Fukujuji Hospital, Japan Anti-Tuberculosis Association, Tokyo, Japan.
  • Kudoh S; Fukujuji Hospital, Japan Anti-Tuberculosis Association, Tokyo, Japan.
  • Leigh MW; Japan Anti-Tuberculosis Association, Tokyo, Japan.
  • Knowles MR; Department of Pediatrics and Marsico Lung Institute, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
  • Keicho N; Department of Medicine and Marsico Lung Institute, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
Mol Genet Genomic Med ; 7(8): e838, 2019 08.
Article em En | MEDLINE | ID: mdl-31270959
BACKGROUND: Primary ciliary dyskinesia (PCD) is a relatively rare autosomal recessive or X-linked disorder affecting ciliary function. In the set of causative genes, however, predominant pathogenic variants remain unknown in Asia. METHOD: A diagnosis of PCD was made following a modern comprehensive testing including genetic analysis; targeted resequencing for screening variants, and Sanger sequencing for determination of the breakpoints, with an additional review of databases to calculate the deletion frequency. A multiplexed PCR-based detection method has also been developed. RESULTS: We ascertained a 50-year-old Japanese male who had been diagnosed with diffuse panbronchiolitis (DPB), but refractory to macrolide therapy. We reevaluated the case and identified a large homozygous deletion spanning exons 1 to 4 of the DRC1 and determined the breakpoints (NM_145038.4: c.1-3952_540 + 1331del27748-bp). In the PCD cohort at the University of North Carolina, we found a female PCD patient of Korean descent harboring the same homozygous deletion. From the Invitae testing cohort, we extracted four carriers of the same deletion among 965 Asian individuals, whereas no deletion was found in the 23,951 non-Asians. CONCLUSION: We speculate that the DRC1 deletion is a recurrent or perhaps founder mutation in Asians. The simple PCR method could be a useful screening tool.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Bronquiolite / Asiático / Testes Genéticos / Transtornos da Motilidade Ciliar / Infecções por Haemophilus / Proteínas Associadas aos Microtúbulos Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Bronquiolite / Asiático / Testes Genéticos / Transtornos da Motilidade Ciliar / Infecções por Haemophilus / Proteínas Associadas aos Microtúbulos Idioma: En Ano de publicação: 2019 Tipo de documento: Article