| Literature DB >> 35503477 |
Ken Saida1, Pin Fee Chong2, Asuka Yamaguchi3, Naka Saito4, Hajime Ikehara5, Eriko Koshimizu1, Rie Miyata3, Akira Ishiko6, Kazuyuki Nakamura7, Hidenori Ohnishi8, Kei Fujioka9, Takafumi Sakakibara10, Hideo Asada11, Kohei Ogawa11, Kyoko Kudo12, Eri Ohashi13, Michiko Kawai13, Yuichi Abe13, Naomi Tsuchida1,14, Yuri Uchiyama1,14, Kohei Hamanaka1, Atsushi Fujita1, Takeshi Mizuguchi1, Satoko Miyatake1,15, Noriko Miyake1,16, Mitsuhiro Kato17, Ryutaro Kira2, Naomichi Matsumoto18.
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.Entities:
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Year: 2022 PMID： 35503477 DOI： 10.1007/s00439-022-02437-w
Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 5.881