A De Novo Missense Mutation in the Inositol 1,4, 5-Triphosphate Receptor Type 1 Gene Causing Severe Pontine and Cerebellar Hypoplasia: Expanding the Phenotype of ITPR1-Related Spinocerebellar Ataxia's

作者：van Dijk Tessa; Barth Peter; Reneman Lie**eth; Appelhof Bart; Baas Frank^*; Poll The Bwee Tien

来源：American Journal of Medical Genetics, Part A, 2017, 173(1): 207-212.

DOI：10.1002/ajmg.a.37962

• pontocerebellar hypoplasia
• ITPR1 gene
• spinocerebellar ataxia

We report a de novo missense mutation (c.7649T>A) in the inositol, 1,4,5 triphosphate receptor type 1 (ITPR1) gene in a patient with severe pontocerebellar hypoplasia. The mutation results in an amino acid substitution of a highly conserved isoleucine by asparagine (p. I2550N) in the transmembrane domain. Mutations and deletions of the ITPR1 gene are associated with several types of autosomal dominant spinocerebellar ataxia, varying in age of onset and severity. Patients have signs of cerebellar ataxia and at most, a mild cerebellar atrophy on MRI. In contrast, the patient we report here has profound cerebellar and pontine hypoplasia. Our finding therefore further expands the spectrum of ITPR1-related ataxias.

• 出版日期2017-1