Abstract | PURPOSE: METHODS: To further evaluate causes of brachytelephalangic chondrodysplasia punctata, we established a Collaboration Education and Test Translation program for CDPX1 from 2008 to 2010. Of the 29 male probands identified, 17 had ARSE mutations that included 10 novel missense alleles and one single- codon deletion. To determine pathogenicity of these and additional missense alleles, we transiently expressed them in COS cells and measured arylsulfatase E activity using the artificial substrate, 4-methylumbelliferyl sulfate. In addition, clinical data were collected to investigate maternal effects and genotype-phenotype correlations. RESULTS: In this study, 58% of males had ARSE mutations. All mutant alleles had negligible arylsulfatase E activity. There were no obvious genotype-phenotype correlations. Maternal etiologies were not reported in most patients. CONCLUSION:
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Authors | Claudia Matos-Miranda, Graeme Nimmo, Bradley Williams, Carolyn Tysoe, Martina Owens, Sherri Bale, Nancy Braverman |
Journal | Genetics in medicine : official journal of the American College of Medical Genetics
(Genet Med)
Vol. 15
Issue 8
Pg. 650-7
(Aug 2013)
ISSN: 1530-0366 [Electronic] United States |
PMID | 23470839
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
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Chemical References |
- ARSL protein, human
- Arylsulfatases
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Topics |
- Alleles
- Animals
- Arylsulfatases
(chemistry, genetics, metabolism)
- COS Cells
- Chlorocebus aethiops
- Chondrodysplasia Punctata
(etiology, genetics, pathology)
- DNA Mutational Analysis
- Genetic Diseases, X-Linked
(etiology, genetics, pathology)
- Genetic Variation
- Humans
- Infant
- Infant, Newborn
- Male
- Mutation, Missense
- Phenotype
- Prospective Studies
- Quantitative Trait, Heritable
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