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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome.

BACKGROUND: The combination of partial absence of the sacrum, anorectal anomalies, and presacral mass constitutes Currarino syndrome (CS), which is associated with mutations in HLXB9. METHODS: We analyzed 5 CS families and 6 sporadic cases for HLXB9 mutations by direct sequencing. Potentially pathologic expansions of HLXB9 GCC repeats were analyzed in patients, 4 general populations [Chinese, Japanese, Yoruba, and Centre du Etude Polymorphisme Human (CEPH)] from the HapMap project, and 145 healthy Chinese. RESULTS: We identified 6 novel mutations affecting highly conserved residues (Ser185X, Trp215X, Ala26fs, Ala75fs, Met1Ile, and Arg273Cys). GCC allele and genotype distributions showed marked statistically significant differences. (GCC)11 was the most common allele overall; its frequency ranged from 90% in CEPH to 68% in Yoruba and 50% in Chinese and Japanese populations. (GCC)9 was almost as common as (GCC)11 in Chinese and Japanese populations, whereas its frequency was <10% in Yoruba and CEPH populations. The Yoruba population had the highest frequency of the largest alleles [(GCC)12 and (GCC)13], which were almost absent in the other groups. CONCLUSIONS: Lack of HLXB9 mutations in some patients and the presence of variable phenotypes suggest DNA alterations in HLXB9 noncoding regions and/or in other genes encoding HLXB9 regulatory molecules or protein partners. If HLXB9, like other homeobox genes, has a threshold beyond which triplet expansions are pathologic, those populations enriched with larger alleles would be at a higher risk. The data illustrate the importance of ethnicity adjustment if these polymorphic markers are to be used in association studies.[1]


  1. Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome. Garcia-Barceló, M., So, M.T., Lau, D.K., Leon, T.Y., Yuan, Z.W., Cai, W.S., Lui, V.C., Fu, M., Herbrick, J.A., Gutter, E., Proud, V., Li, L., Pierre-Louis, J., Aleck, K., van Heurn, E., Belloni, E., Scherer, S.W., Tam, P.K. Clin. Chem. (2006) [Pubmed]
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