Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations

T Okazaki; Y Saito; T Hayashida; S Akaboshi; N Miyake; N Matsumoto; N Kasagi; K Adachi; Y Shinohara; E Nanba; Y Maegaki

doi:10.1111/cge.13378

Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations

Clin Genet. 2018 Oct;94(3-4):391-392. doi: 10.1111/cge.13378. Epub 2018 Jun 10.

Authors

T Okazaki^{1

2}, Y Saito¹, T Hayashida¹, S Akaboshi³, N Miyake⁴, N Matsumoto⁴, N Kasagi², K Adachi⁵, Y Shinohara⁶, E Nanba^{2

5}, Y Maegaki^{1

2}

Affiliations

¹ Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan.
² Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan.
³ Division of Child Neurology, Tottori Medical Center, Tottori, Japan.
⁴ Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
⁵ Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Yonago, Japan.
⁶ Division of Radiology, Department of Pathophysiological Therapeutic Science, Faculty of Medicine, Tottori University, Yonago, Japan.

PMID: 29888467
DOI: 10.1111/cge.13378

Abstract

LAMB1 gene analysis should be considered for intellectually disabled patients with cerebellar cysts, white matter signal change, and cortical malformation. Muscular involvement is absent, in contrast to the α-dystroglycanopathy types of congenital muscular dystrophies.

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Cerebellar Diseases / diagnostic imaging*
Cerebellar Diseases / genetics*
Cerebral Cortex / pathology*
Child
Cysts / diagnostic imaging*
Cysts / genetics*
Female
Humans
Laminin / genetics*
Male
Phenotype*
White Matter / pathology*

Substances

LAMB1 protein, human
Laminin