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Monogenic causes of pigmentary mosaicism.
Saida, Ken; Chong, Pin Fee; Yamaguchi, Asuka; Saito, Naka; Ikehara, Hajime; Koshimizu, Eriko; Miyata, Rie; Ishiko, Akira; Nakamura, Kazuyuki; Ohnishi, Hidenori; Fujioka, Kei; Sakakibara, Takafumi; Asada, Hideo; Ogawa, Kohei; Kudo, Kyoko; Ohashi, Eri; Kawai, Michiko; Abe, Yuichi; Tsuchida, Naomi; Uchiyama, Yuri; Hamanaka, Kohei; Fujita, Atsushi; Mizuguchi, Takeshi; Miyatake, Satoko; Miyake, Noriko; Kato, Mitsuhiro; Kira, Ryutaro; Matsumoto, Naomichi.
Affiliation
  • Saida K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
  • Chong PF; Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan.
  • Yamaguchi A; Department of Pediatrics, Tokyo-Kita Medical Center, Tokyo, Japan.
  • Saito N; Department of Pediatrics, Tsuruoka Municipal Shonai Hospital, Yamagata, Japan.
  • Ikehara H; Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.
  • Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
  • Miyata R; Department of Pediatrics, Tokyo-Kita Medical Center, Tokyo, Japan.
  • Ishiko A; Department of Dermatology, Toho University School of Medicine, Tokyo, Japan.
  • Nakamura K; Department of Pediatrics, Faculty of Medicine, Yamagata University, Yamagata, Japan.
  • Ohnishi H; Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.
  • Fujioka K; Center of General Internal Medicine and Rheumatology, Gifu Municipal Hospital, Gifu, Japan.
  • Sakakibara T; Department of Pediatrics, Nara Medical University School of Medicine, Nara, Japan.
  • Asada H; Department of Dermatology, Nara Medical University School of Medicine, Nara, Japan.
  • Ogawa K; Department of Dermatology, Nara Medical University School of Medicine, Nara, Japan.
  • Kudo K; Department of Dermatology, Fukuoka Children's Hospital, Fukuoka, Japan.
  • Ohashi E; Division of Neurology, National Center for Child Health and Development, Tokyo, Japan.
  • Kawai M; Division of Neurology, National Center for Child Health and Development, Tokyo, Japan.
  • Abe Y; Division of Neurology, National Center for Child Health and Development, Tokyo, Japan.
  • Tsuchida N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
  • Uchiyama Y; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.
  • Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
  • Fujita A; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.
  • Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
  • Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
  • Kato M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
  • Kira R; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Hum Genet ; 141(11): 1771-1784, 2022 Nov.
Article in En | MEDLINE | ID: mdl-35503477
ABSTRACT
Pigmentary mosaicism of the Ito type, also known as hypomelanosis of Ito, is a neurocutaneous syndrome considered to be predominantly caused by somatic chromosomal mosaicism. However, a few monogenic causes of pigmentary mosaicism have been recently reported. Eleven unrelated individuals with pigmentary mosaicism (mostly hypopigmented skin) were recruited for this study. Skin punch biopsies of the probands and trio-based blood samples (from probands and both biological parents) were collected, and genomic DNA was extracted and analyzed by exome sequencing. In all patients, plausible monogenic causes were detected with somatic and germline variants identified in five and six patients, respectively. Among the somatic variants, four patients had MTOR variant (36%) and another had an RHOA variant. De novo germline variants in USP9X, TFE3, and KCNQ5 were detected in two, one, and one patients, respectively. A maternally inherited PHF6 variant was detected in one patient with hyperpigmented skin. Compound heterozygous GTF3C5 variants were highlighted as strong candidates in the remaining patient. Exome sequencing, using patients' blood and skin samples is highly recommended as the first choice for detecting causative genetic variants of pigmentary mosaicism.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hypopigmentation / Mosaicism Type of study: Etiology_studies / Prognostic_studies Limits: Humans Language: En Journal: Hum Genet Year: 2022 Document type: Article Affiliation country:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hypopigmentation / Mosaicism Type of study: Etiology_studies / Prognostic_studies Limits: Humans Language: En Journal: Hum Genet Year: 2022 Document type: Article Affiliation country: