Abstract | BACKGROUND: METHODS: Haplotype analysis for linkage to MCKD2 was performed in 25 MCKD families. In the kindreds showing linkage to the MCKD2 locus on chromosome 16p12, mutational analysis of the UMOD gene was performed by exon polymerase chain reaction (PCR) and direct sequencing. RESULTS: In 19 families, haplotype analysis was compatible with linkage to the MCKD2 locus. All these kindreds were examined for mutations in the UMOD gene. In three different families, three novel heterozygous mutations in the UMOD gene were found and segregated with the phenotype in affected individuals. Mutations were found only in exon 4. CONCLUSION: We confirm the UMOD gene as the disease-causing gene for MCKD2. All three novel mutations were found in the fourth exon of UMOD, in which all mutations except one (this is located in the neighboring exon 5) published so far are located. These data point to a specific role of exon 4 encoded sequence of UMOD in the generation of the MCKD2 renal phenotype.
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Authors | Matthias T F Wolf, Bettina E Mucha, Massimo Attanasio, Isabella Zalewski, Stephanie M Karle, Hartmut P H Neumann, Nazneen Rahman, Birgit Bader, Conrad A Baldamus, Edgar Otto, Ralph Witzgall, Arno Fuchshuber, Friedhelm Hildebrandt |
Journal | Kidney international
(Kidney Int)
Vol. 64
Issue 5
Pg. 1580-7
(Nov 2003)
ISSN: 0085-2538 [Print] United States |
PMID | 14531790
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Mucoproteins
- UMOD protein, human
- Uromodulin
- Epidermal Growth Factor
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Topics |
- Adolescent
- Amino Acid Sequence
- Base Sequence
- Child
- Child, Preschool
- Epidermal Growth Factor
(chemistry, genetics)
- Exons
(genetics)
- Female
- Genetic Linkage
- Haplotypes
- Humans
- Male
- Molecular Sequence Data
- Mucoproteins
(chemistry, genetics)
- Multigene Family
- Pedigree
- Phenotype
- Polycystic Kidney, Autosomal Dominant
(genetics)
- Protein Structure, Tertiary
- Uromodulin
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