A case report of SPONASTRIME dysplasia with novel TONSL mutation: genetic analysis, clinical manifestations, and the effect of growth hormone treatment.

Minglan Yao, Cai Zhang, Sujuan Li, Anran Tian, Furong Liang, Xiaoping Luo

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Article in Human molecular genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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6 authors.

Minglan YaoDepartment of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1095, Jiefang Avenue, Wuhan, Hubei Province 430030, P. R. China.ORCID 0009-0007-6313-9754

Cai ZhangDepartment of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1095, Jiefang Avenue, Wuhan, Hubei Province 430030, P. R. China.

Sujuan LiDepartment of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1095, Jiefang Avenue, Wuhan, Hubei Province 430030, P. R. China.

Anran TianDepartment of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1095, Jiefang Avenue, Wuhan, Hubei Province 430030, P. R. China.

Furong LiangDepartment of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1095, Jiefang Avenue, Wuhan, Hubei Province 430030, P. R. China.

Xiaoping LuoDepartment of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1095, Jiefang Avenue, Wuhan, Hubei Province 430030, P. R. China.ORCID 0000-0002-3748-4817

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

SPONASTRIME dysplasia is a rare genetic disorder characterized by short stature, facial abnormalities, vertebral issues, and bone striations, caused by recessive mutations in the TONSL gene. We reported a 6-year-old boy with characteristic clinical features of SPONASTRIME dysplasia, accompanied by neutropenia. Genetic analysis revealed biallelic variants in TONSL: mother-inherited c.1289del (p.Gln430ArgfsTer13) and father-inherited c.1961G > C (p.Arg654Pro), both of which were previously unreported. We predicted the c.1289del (p.Gln430ArgfsTer13) variant as likely pathogenic in silico analysis, while the c.1961G > C (p.Arg654Pro) variant as uncertain pathogenicity in silico analysis, and the pathogenicity was confirmed by functional studies in transfected HEK 293 T cells. Six-month growth hormone therapy was administered to the patient after confirmed diagnosis, with limited improvement. These findings have important implications for the diagnosis and treatment of the disease.

Indexed as

DwarfismGrowth HormoneHuman Growth HormoneNeutropeniaChildHEK293 CellsHumansMaleMutationPedigreeGrowth HormoneHuman Growth Hormoneautosomal recessive inheritancerare genetic diseasesskeletal dysplasiaSponastrime dysplasiaTonsl

Identifiers

PMID40794898

DOI10.1093/hmg/ddaf128

PMCPMC12449187

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