Tokushima University / Educator and Researcher Directory --- Nakano, Mutsuki

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Tokushima University ⟩ University Hospital ⟩ Clinical Division ⟩ Department of Pediatrics,Obstetrics and Gynecology ⟩ Pediatrics ⟩
Tokushima University ⟩ University Hospital ⟩ 先端医科医療開発研究プロジェクト ⟩
Tokushima University ⟩ Faculty of Medicine ⟩ School of Medicine ⟩ Course of Human Development ⟩ Pediatrics ⟩

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Research

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Academic Paper (Judged Full Paper):

1.	Yuki Sakaki, Kazumi Okamura, Mutsuki Nakano and Maki Urushihara : 抗PD-1抗体投与後に移植後シクロホスファミド併用ハプロ移植を行ったHodgkinリンパ腫, The Journal of the Japan Pediatric Society, 129, 4, 573-577, 2025. (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1520586035050333440 (CiNii: 1520586035050333440)
2.	Rina Shimomura, Keiko Yamamoto Shimojima, Mutsuki Nakano, Takahiro Tayama, Tatsuo Mori, Eriko Nishi, Ken Inoue, Satoru Nagata, Nobuhiko Okamoto and Toshiyuki Yamamoto : Unique DUP-TRP/INV-DUP Structure Detected by Long-Read Sequencing., American Journal of Medical Genetics. Part A., 197, 7, e64044, 2025. (Summary) Duplication-triplication/inverted-duplication (DUP-TRP/INV-DUP) is one of the mechanisms that causes genomic triplications. There are some characteristics of the DUP-TRP/INV-DUP; the appearance of a moving average of signal log2 ratio in genomic copy number analysis consisting of the highest center with lower steps on both sides; the chromosomal structure is composed of only two junctions; there are inverted repeats at the ends of the triplications and duplications on the same side and those connected in the opposite direction; and the size of the DUP-TRP/INV-DUP structure is generally less than the 1-Mb range. In this study, we analyzed two patients with DUP-TRP/INV-DUP involving PLP1 and MECP2. Whole-genome long-read sequencing was performed, and all breakpoint junctions were confirmed. Patient 1 showed a typical DUP-TRP/INV-DUP pattern involving PLP1, whereas Patient 2 showed a unique DUP-TRP/INV-DUP pattern in the MECP2 region, which involved additional chromosomal breakages at a 46-Mb far remote region of Xq22.3. Based on this finding, we suspected that chromosomal breakage at Xq22.3 was the initial damage. The detected two break ends were considered to be repaired by binding to the Xq28 region adjacent to the inverted repeat structure to form a triplication structure. (Keyword) Humans / Methyl-CpG-Binding Protein 2 / Male / Myelin Proteolipid Protein / Female / Chromosomes, Human, X / Chromosome Inversion / Chromosome Duplication (Link to Publication Site) ● Publication site (DOI): 10.1002/ajmg.a.64044 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 40070183 ● Search Scopus @ Elsevier (PMID): 40070183 ● Search Scopus @ Elsevier (DOI): 10.1002/ajmg.a.64044 (DOI: 10.1002/ajmg.a.64044, PubMed: 40070183)
3.	Tatsuo Mori, Mutsuki Nakano, Takahiro Tayama, Aya Gohji, Yoshihiro Touda, Shinichi Kameyama, Takeshi Mizuguchi, Maki Urushihara and Naomichi Matsumoto : A female case of L1 syndrome that may have developed due to skewedXinactivation., Brain & Development, 46, 6, 230-233, 2024. (Summary) Heterozygous L1CAM variants cause L1 syndrome with hydrocephalus and aplasia/hypoplasia of the corpus callosum. L1 syndrome usually has an X-linked recessive inheritance pattern; however, we report a rare case occurring in a female child. The patient's family history was unremarkable. Fetal ultrasonography revealed enlarged bilateral ventricles of the brain and hypoplasia of the corpus callosum. The patient was born at 38 weeks and 4 days of gestation. Brain MRI performed on the 8th day of life revealed enlargement of the brain ventricles, marked in the lateral and third ventricles with irregular margins, and hypoplasia of the corpus callosum. Exome sequencing at the age of 2 years and 3 months revealed a de novo heterozygous L1CAM variant (NM_000425.5: c.2934_2935delp. (His978Glnfs * 25). X-chromosome inactivation using the human androgen receptor assay revealed that the pattern of X-chromosome inactivation in the patients was highly skewed (96.6 %). The patient is now 4 years and 11 months old and has a mild developmental delay (developmental quotient, 56) without significant progression of hydrocephalus. In this case, we hypothesized that the dominant expression of the variant allele arising from skewed X inactivation likely caused L1 syndrome. Symptomatic female carriers may challenge the current policies of prenatal and preimplantation diagnoses. (Keyword) Humans / Female / X Chromosome Inactivation / Neural Cell Adhesion Molecule L1 / Hydrocephalus / Child, Preschool / Agenesis of Corpus Callosum (Tokushima University Institutional Repository) ● Metadata: 2012240 (Link to Publication Site) ● Publication site (DOI): 10.1016/j.braindev.2024.03.001 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 38480026 ● Summary page in Scopus @ Elsevier: 2-s2.0-85187576992 (Tokushima University Institutional Repository: 2012240, DOI: 10.1016/j.braindev.2024.03.001, PubMed: 38480026, Elsevier: Scopus)

Proceeding of Domestic Conference:

1.	Yoshiteru Tada, Toshitaka Fujihara, Mai Azumi, Yoshihito Matsuzaki, Tatsuo Mori, Mutsuki Nakano, 飯田幸治 and Yasushi Takagi : 中心領域のてんかん焦点切除術を行ったスタージ・ウェーバー症候群の1例, 第12回全国てんかんセンター協議会総会, Mar. 2025.
2.	松﨑慶仁, Yoshiteru Tada, Toshitaka Fujihara, Mai Azumi, Tatsuo Mori, Mutsuki Nakano, 飯田幸治 and Yasushi Takagi : 中心領域のてんかん焦点切除術を行ったスタージ・ウェーバー症候群の1例, 第98回(一社)日本脳神経外科学会中国四国支部学術集会, Dec. 2024.
3.	渡部愛菜, Tatsuo Mori, Mutsuki Nakano, Takahiro Tayama, Yoshihiro Touda, 輿水江里子, 宮武聡, 松本直通 and Maki Urushihara : 遊走性焦点発作を伴う乳児てんかんの診断基準を満たしたSCN8A- Related Developmental and Epileptic Encephalopathyの男児例, 掲載誌はありません, Sep. 2024.
4.	Mutsuki Nakano, Tatsuo Mori, Takahiro Tayama, Aya Gohji, Yoshihiro Touda, 輿水江里子, 宮武聡子, 松本直通 and Maki Urushihara : PNKP遺伝子の複合ヘテロ接合性変異によるmicrocephaly,seizures,and developmental delay(MCSZ)の女児例, No to Hattatsu, 56, 6, 463, Jul. 2024.
5.	Mutsuki Nakano, Tatsuo Mori, Takahiro Tayama, Aya Gohji, Yoshihiro Touda, 輿水江里子, 宮武聡子, 松本直通 and Maki Urushihara : PNKP遺伝子の複合ヘテロ接合性変異によるmicrocephaly,seizures,and developmental delay(MCSZ)の女児例, The Journal of the Japan Pediatric Society, Jun. 2024.
6.	下村里奈, 山本圭子, Mutsuki Nakano, Takahiro Tayama, Tatsuo Mori, 井上健 and 山本俊至 : PLP1の3重複を来したDUP-TRP/INV-DUPの構造解析, No to Hattatsu, 56Page S263, Suppl, 263, May 2024.
7.	Tatsuo Mori, Mutsuki Nakano, Takahiro Tayama, Aya Gohji, Yoshihiro Touda, 亀山真一, 水口剛, 松本直通 and Maki Urushihara : X染色体不活化パターンの偏りにより発症した可能性のあるL1症候群の女児例, No to Hattatsu, 56, Suppl, 251, May 2024.
8.	Takahiro Tayama, Tatsuo Mori, Mutsuki Nakano, Aya Gohji and Maki Urushihara : COVID-19罹患後に発症した多発性脳梗塞の乳児例, No to Hattatsu, 56, 1, 70, Jul. 2023.