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Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype–phenotype correlation

Overview of attention for article published in Journal of Human Genetics, April 2006
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Title
Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype–phenotype correlation
Published in
Journal of Human Genetics, April 2006
DOI 10.1007/s10038-006-0396-3
Pubmed ID
Authors

Chengzhe Xu, Norio Sakai, Masako Taniike, Koji Inui, Keiichi Ozono

Abstract

Krabbe disease is an autosomal recessive leukodystrophy. It is pathologically characterized by demyelination of the central and peripheral nervous systems and the accumulation of globoid cells in brain white matter. It is caused by a deficiency of galactocerebrosidase (GALC) activity. We investigated mutations of the GALC gene in 17 Japanese patients with Krabbe disease, the largest subject number of Japanese patients to date, and found 27 mutations. Of these mutations, six were novel, including two nonsense mutations, W115X and R204X, two missense mutations, S257F and L364R, a small deletion, 393delT, and a small insertion, 1719-1720insT. Our findings, taken with the reported mutations in Japanese patients, confirm several mutations common to Japanese patients, the two most frequent being 12Del3Ins and I66M+I289V, which account for 37% of all mutant alleles. With two additional mutations, G270D and T652P, these account for up to 57% of genetic mutations in Japanese patients. Distribution of the mutations within the GALC gene indicated some genotype-phenotype correlation. I66M+I289M, G270D, and L618S contributed to a mild phenotype. Screening for these mutations may provide an effective method with which to predict the clinical phenotype.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 45 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 45 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 15 33%
Other 6 13%
Student > Ph. D. Student 6 13%
Student > Bachelor 4 9%
Student > Postgraduate 4 9%
Other 5 11%
Unknown 5 11%
Readers by discipline Count As %
Agricultural and Biological Sciences 15 33%
Biochemistry, Genetics and Molecular Biology 11 24%
Medicine and Dentistry 7 16%
Neuroscience 4 9%
Computer Science 1 2%
Other 1 2%
Unknown 6 13%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 14 April 2014.
All research outputs
#7,453,479
of 22,786,691 outputs
Outputs from Journal of Human Genetics
#649
of 1,652 outputs
Outputs of similar age
#23,272
of 66,331 outputs
Outputs of similar age from Journal of Human Genetics
#8
of 14 outputs
Altmetric has tracked 22,786,691 research outputs across all sources so far. This one is in the 44th percentile – i.e., 44% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,652 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.6. This one is in the 39th percentile – i.e., 39% of its peers scored the same or lower than it.
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