Atypical Sotos syndrome caused by a novel splice site variant

Mari Minatogawa; Taichi Tsuji; Mie Inaba; Noriaki Kawakami; Seiji Mizuno; Tomoki Kosho

doi:10.1038/s41439-022-00219-4

Atypical Sotos syndrome caused by a novel splice site variant

Hum Genome Var. 2022 Nov 16;9(1):41. doi: 10.1038/s41439-022-00219-4.

Authors

Mari Minatogawa^{1

2}, Taichi Tsuji^{3

4}, Mie Inaba⁵, Noriaki Kawakami^{3

6}, Seiji Mizuno⁵, Tomoki Kosho^{7

8

9

10}

Affiliations

¹ Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
² Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
³ Department of Orthopedics, Meijo Hospital, Nagoya, Japan.
⁴ Department of Orthopedics, Toyota Kosei Hospital, Toyota, Japan.
⁵ Department of Pediatrics, Central Hospital, Aichi Developmental Disability Center, Kasugai, Japan.
⁶ Department of Orthopedics, Ichinomiyanishi Hospital, Ichinomiya, Japan.
⁷ Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan. ktomoki@shinshu-u.ac.jp.
⁸ Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan. ktomoki@shinshu-u.ac.jp.
⁹ Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan. ktomoki@shinshu-u.ac.jp.
¹⁰ Research Center for Supports to Advanced Science, Shinshu University, Matsumoto, Nagano, Japan. ktomoki@shinshu-u.ac.jp.

Abstract

Sotos syndrome is usually caused by haploinsufficiency of NSD1; it is characterized by overgrowth, craniofacial features, and learning disabilities. We describe a boy with Sotos syndrome caused by a splicing variant (c.4378+5G>A). The clinical manifestations included severe connective tissue involvement, including joint hypermobility, progressive scoliosis, pectus deformity, and skin hyperextensibility; no overgrowth was observed.

Grants and funding

21445007/Japan Agency for Medical Research and Development (AMED)