Frontiers in genetics · 2026
Case Report: First report of spinal stenosis in Imagawa-Matsumoto syndrome: a novel SUZ12 variant in an 11-year-old Chinese child.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Pang Zixi, Zhang Tao, Wang Dahui, Xu Ping, Wu Bingbing, Shen Quanli, Hou Jia
Аннотация
OBJECTIVE: To expand the phenotypic and genotypic spectrum of Imagawa-Matsumoto syndrome (IMMAS) by investigating the genetic etiology and unique clinical manifestations of an overgrowth case associated with a SUZ12 gene variant.
METHODS: We report a case of IMMAS in an 11-year-old Chinese girl who was admitted to our hospital due to unsteady gait and an abnormal walking pattern for 1.5 years. Trio-based whole-exome sequencing (trio-WES) was performed to identify the genetic etiology. Additionally, we conducted a systematic literature review of previously reported cases of overgrowth syndromes associated with SUZ12 variants.
RESULTS: The patient presented with generalized overgrowth, characteristic facial features, and skeletal abnormalities consistent with IMMAS. Cervical spine magnetic resonance imaging (MRI) revealed cervical canal stenosis accompanied by signs of cervical spinal cord compression and cord edema. The patient underwent posterior cervical single-door decompression, canal expansion with internal fixation, and adhesiolysis of the spinal cord and nerve roots. Trio-WES identified a de novo variant in SUZ12 (NM_015355.4, c.1783_1786del; p. Lys595Profs*18). The literature review suggested that cervical spinal stenosis in our case may represent a newly reported phenotype associated with SUZ12 variants.
CONCLUSION: Our findings expand the phenotypic and genotypic spectrum of IMMAS. For patients with overgrowth syndromes, spinal stenosis should be considered during clinical evaluation.
METHODS: We report a case of IMMAS in an 11-year-old Chinese girl who was admitted to our hospital due to unsteady gait and an abnormal walking pattern for 1.5 years. Trio-based whole-exome sequencing (trio-WES) was performed to identify the genetic etiology. Additionally, we conducted a systematic literature review of previously reported cases of overgrowth syndromes associated with SUZ12 variants.
RESULTS: The patient presented with generalized overgrowth, characteristic facial features, and skeletal abnormalities consistent with IMMAS. Cervical spine magnetic resonance imaging (MRI) revealed cervical canal stenosis accompanied by signs of cervical spinal cord compression and cord edema. The patient underwent posterior cervical single-door decompression, canal expansion with internal fixation, and adhesiolysis of the spinal cord and nerve roots. Trio-WES identified a de novo variant in SUZ12 (NM_015355.4, c.1783_1786del; p. Lys595Profs*18). The literature review suggested that cervical spinal stenosis in our case may represent a newly reported phenotype associated with SUZ12 variants.
CONCLUSION: Our findings expand the phenotypic and genotypic spectrum of IMMAS. For patients with overgrowth syndromes, spinal stenosis should be considered during clinical evaluation.