Document Detail


A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.
MedLine Citation:
PMID:  24974158     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
OBJECTIVE: Hypomyelinating leukoencephalopathy is a heterogeneous disorder caused by mutations in several-different genes. Clinical entity of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is one of them.
METHOD: A male patient showed pendular nystagmus, infantile hypotonia, an abnormal pattern of brain auditory evoked potential, and hypomyelination on brain magnetic resonance imaging, which suggested Pelizaeus-Merzbacher disease (PMD) as the candidate diagnosis; however, no abnormality was found in the proteolipid protein 1 gene (PLP1) that is responsible for PMD. Whole exome sequencing was performed to identify pathogenic mutations in this patient.
RESULTS: A de novo mutation was identified in the tubulin 4a gene (TUBB4A), which has been recently reported to be associated with H-ABC. Although the patient did not show any neurological features suggesting H-ABC, such as extrapyramidal or cerebellar signs, radiological findings demonstrated the finding of cerebellar atrophy at the age of 36months.
CONCLUSION: This study suggested us the difficulty of clinical diagnosis for H-ABC early in the life of the patient, which makes predication of prognosis and genetic counseling difficult.
Authors:
Keiko Shimojima; Akihisa Okumura; Mitsuru Ikeno; Akira Nishimura; Akira Saito; Hirotomo Saitsu; Naomichi Matsumoto; Toshiyuki Yamamoto
Related Documents :
24696688 - Frequency and prognostic relevance of flt3 mutations in saudi acute myeloid leukemia pa...
20730878 - Mutation in connexin 32 causes charcot-marie-tooth disease in a large chinese family.
23806268 - Haplotypes of the il-1 gene cluster are associated with gastroesophageal reflux disease...
23585368 - Exome resequencing identifies potential tumor-suppressor genes that predispose to color...
9634518 - A european multicenter study of phenylalanine hydroxylase deficiency: classification of...
23543718 - Competence for natural genetic transformation in the streptococcus bovis group streptoc...
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-6-26
Journal Detail:
Title:  Brain & development     Volume:  -     ISSN:  1872-7131     ISO Abbreviation:  Brain Dev.     Publication Date:  2014 Jun 
Date Detail:
Created Date:  2014-6-29     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  The spatiotemporal cellular dynamics of lung immunity.
Next Document:  First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, ...