Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature
We report three Japanese patients with Sotos syndrome accompanied by marked overgrowth, i.e., a 2 8/12-year-old boy with a height of 105.2 cm (+4.4 SD) (patient 1), the mother of patient 1 with a height of 180.8 cm (+4.1 SD) (patient 2), and a 12 10/12-year-old girl with a height of 189.4 cm (+6.3 S...
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The Japan Endocrine Society
2024-01-01
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| Series: | Endocrine Journal |
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| Online Access: | https://www.jstage.jst.go.jp/article/endocrj/71/1/71_EJ23-0502/_html/-char/en |
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| author | Yohei Masunaga Hiroyuki Ono Yasuko Fujisawa Kiyosu Taniguchi Hirotomo Saitsu Tsutomu Ogata |
| author_facet | Yohei Masunaga Hiroyuki Ono Yasuko Fujisawa Kiyosu Taniguchi Hirotomo Saitsu Tsutomu Ogata |
| author_sort | Yohei Masunaga |
| collection | DOAJ |
| description | We report three Japanese patients with Sotos syndrome accompanied by marked overgrowth, i.e., a 2 8/12-year-old boy with a height of 105.2 cm (+4.4 SD) (patient 1), the mother of patient 1 with a height of 180.8 cm (+4.1 SD) (patient 2), and a 12 10/12-year-old girl with a height of 189.4 cm (+6.3 SD) (patient 3). In addition to the marked overgrowth (tall stature), patients 1–3 exhibited Sotos syndrome-compatible macrocephaly and characteristic features, whereas intellectual and developmental disabilities remained at a borderline level in patient 1 and were apparently absent from patients 2 and 3. Thus, whole exome sequencing was performed to confirm the diagnosis, revealing a likely pathogenic c.6356A>G:p.(Asp2119Gly) variant in NSD1 of patients 1 and 2, and a likely pathogenic c.6599dupT:p.(Ser2201Valfs*4) variant in NSD1 of patient 3 (NM_022455.5). The results, in conjunction with the previously reported data in nine patients with marked overgrowth (≥4.0 SD), imply that several patients with Sotos syndrome have extreme tall stature even in adulthood. Thus, it is recommended to examine NSD1 in patients with marked overgrowth as the salient feature. |
| format | Article |
| id | doaj-art-116442cda004408485d26080bfe322ef |
| institution | Kabale University |
| issn | 1348-4540 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | The Japan Endocrine Society |
| record_format | Article |
| series | Endocrine Journal |
| spelling | doaj-art-116442cda004408485d26080bfe322ef2025-01-22T06:31:10ZengThe Japan Endocrine SocietyEndocrine Journal1348-45402024-01-01711758110.1507/endocrj.EJ23-0502endocrjSotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literatureYohei Masunaga0Hiroyuki Ono1Yasuko Fujisawa2Kiyosu Taniguchi3Hirotomo Saitsu4Tsutomu Ogata5Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu 431-3192, JapanDepartment of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu 431-3192, JapanDepartment of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu 431-3192, JapanDepartment of Pediatrics, NHO Mie National Hospital, Tsu 514-0125, JapanDepartment of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, JapanDepartment of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu 431-3192, JapanWe report three Japanese patients with Sotos syndrome accompanied by marked overgrowth, i.e., a 2 8/12-year-old boy with a height of 105.2 cm (+4.4 SD) (patient 1), the mother of patient 1 with a height of 180.8 cm (+4.1 SD) (patient 2), and a 12 10/12-year-old girl with a height of 189.4 cm (+6.3 SD) (patient 3). In addition to the marked overgrowth (tall stature), patients 1–3 exhibited Sotos syndrome-compatible macrocephaly and characteristic features, whereas intellectual and developmental disabilities remained at a borderline level in patient 1 and were apparently absent from patients 2 and 3. Thus, whole exome sequencing was performed to confirm the diagnosis, revealing a likely pathogenic c.6356A>G:p.(Asp2119Gly) variant in NSD1 of patients 1 and 2, and a likely pathogenic c.6599dupT:p.(Ser2201Valfs*4) variant in NSD1 of patient 3 (NM_022455.5). The results, in conjunction with the previously reported data in nine patients with marked overgrowth (≥4.0 SD), imply that several patients with Sotos syndrome have extreme tall stature even in adulthood. Thus, it is recommended to examine NSD1 in patients with marked overgrowth as the salient feature.https://www.jstage.jst.go.jp/article/endocrj/71/1/71_EJ23-0502/_html/-char/ensotos syndromeovergrowthnuclear receptor binding set domain protein 1 (nsd1)whole exome sequencing |
| spellingShingle | Yohei Masunaga Hiroyuki Ono Yasuko Fujisawa Kiyosu Taniguchi Hirotomo Saitsu Tsutomu Ogata Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature Endocrine Journal sotos syndrome overgrowth nuclear receptor binding set domain protein 1 (nsd1) whole exome sequencing |
| title | Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature |
| title_full | Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature |
| title_fullStr | Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature |
| title_full_unstemmed | Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature |
| title_short | Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature |
| title_sort | sotos syndrome with marked overgrowth in three japanese patients with heterozygous likely pathogenic nsd1 variants case reports with review of literature |
| topic | sotos syndrome overgrowth nuclear receptor binding set domain protein 1 (nsd1) whole exome sequencing |
| url | https://www.jstage.jst.go.jp/article/endocrj/71/1/71_EJ23-0502/_html/-char/en |
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