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Atypical Sotos syndrome caused by a novel splice site variant.

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.

SUBMITTER: Minatogawa M

PROVIDER: S-EPMC9666520 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature

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Atypical Sotos syndrome caused by a novel splice site variant.

Minatogawa Mari M Tsuji Taichi T Inaba Mie M Kawakami Noriaki N Mizuno Seiji S Kosho Tomoki T

Human genome variation 20221116 1

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. ...[more]

PMID: 36379925

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