CSMD1在儿童言语失用症中致病作用的证据。
Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech.
作者信息
Formicola Daniela, Podda Irina, Pantaleo Marilena, Andreucci Elena, Lopergolo Diego, Giglio Sabrina, Santorelli Filippo Maria, Chilosi Anna
机构信息
Department of Neurobiology and Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
Parole al Centro Studio di Logopedia, Genoa, Italy.
出版信息
Neuropediatrics. 2023 Dec;54(6):407-411. doi: 10.1055/s-0043-1771033. Epub 2023 Aug 7.
Childhood apraxia of speech (CAS) is a pediatric motor speech disorder. The genetic etiology of this complex neurological condition is not yet well understood, although some genes have been linked to it. We describe the case of a boy with a severe and persistent motor speech disorder, consistent with CAS, and a coexisting language impairment.Whole exome sequencing in our case revealed a and splicing mutation in the gene.
儿童言语失用症（CAS）是一种儿科运动性言语障碍。尽管一些基因已被认为与这种复杂的神经疾病有关，但其遗传病因尚未完全明确。我们描述了一名患有严重且持续性运动性言语障碍（符合CAS）并伴有语言障碍的男孩的病例。我们病例的全外显子组测序显示在 基因中存在一个 及剪接突变。
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