横纹肌溶解症
肌肉活检
医学
表型
先天性肌病
肌病
错义突变
髓系白血病
内科学
病理
活检
基因
遗传学
生物
作者
Roula Ghaoui,Thuong T. Ha,Jennifer Kerkhof,Haley McConkey,Song Gao,Milena Babic,Rob King,Gianina Ravenscroft,Barbara Kocyzek,Sophia Otto,Nigel G. Laing,Hamish Scott,Bekim Sadikovic,Karin S. Kassahn
标识
DOI:10.1016/j.nmd.2023.04.002
摘要
Pathogenic variants in DNMT3A are most commonly associated with Tatton-Brown-Rahman Syndrome (TBRS), but includes other phenotypes such as Heyn-Sproul-Jackson syndrome and acute myeloid leukemia (AML). We describe a patient presenting to the neuromuscular clinic with a de novo missense variant in DNMT3A where the striking clinical feature is that of a congenital myopathy with associated episodes of rhabdomyolysis, severe myalgias and chest pain along with phenotypic features associated with TBRS. Muscle biopsy showed minor myopathic features and cardiac investigations revealed mildly impaired bi-ventricular systolic function. We confirmed the DNA methylation profile matched haplo-insufficient TBRS cases, consistent with a loss of methyltransferase activity. Our report emphasizes the phenotypic overlap of patients with syndromic disorders presenting to neuromuscular clinics and limitations of gene panels in establishing a molecular diagnosis.
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