{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:21Z","timestamp":1761717981450},"reference-count":31,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2006,1,1]],"date-time":"2006-01-01T00:00:00Z","timestamp":1136073600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2006,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>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.<\/jats:p>\n               <jats:p>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.<\/jats:p>\n               <jats:p>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 &amp;lt;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.<\/jats:p>\n               <jats:p>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.<\/jats:p>","DOI":"10.1373\/clinchem.2005.056192","type":"journal-article","created":{"date-parts":[[2005,10,28]],"date-time":"2005-10-28T00:53:26Z","timestamp":1130460806000},"page":"46-52","source":"Crossref","is-referenced-by-count":20,"title":["Population Differences in the Polyalanine Domain and 6 New Mutations in HLXB9 in Patients with Currarino Syndrome"],"prefix":"10.1093","volume":"52","author":[{"given":"Merce\u0300","family":"Garcia-Barcelo\u0301","sequence":"first","affiliation":[{"name":"Department of Surgery, Genome Research Center, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China"},{"name":"Department of Surgery, Genome Research Center, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Man-ting","family":"So","sequence":"first","affiliation":[{"name":"Department of Surgery, Genome Research Center, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China"},{"name":"Department of Surgery, Genome Research Center, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danny Ko-chun","family":"Lau","sequence":"first","affiliation":[{"name":"Department of Surgery, Genome Research Center, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas Yuk-yu","family":"Leon","sequence":"first","affiliation":[{"name":"Department of Surgery, Genome Research Center, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zheng-wei","family":"Yuan","sequence":"first","affiliation":[{"name":"Department of Surgery, Genome Research Center, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China"},{"name":"Department of Pediatric Surgery, China Medical University, Shenyang, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei-song","family":"Cai","sequence":"first","affiliation":[{"name":"Department of Surgery, Genome Research Center, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China"},{"name":"Department of Pediatric Surgery, China Medical University, Shenyang, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent Chi-hang","family":"Lui","sequence":"first","affiliation":[{"name":"Department of Surgery, Genome Research Center, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming","family":"Fu","sequence":"first","affiliation":[{"name":"Department of Surgery, Genome Research Center, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China"},{"name":"Department of Surgery, Beijing Children\u2019s Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jo-Anne","family":"Herbrick","sequence":"first","affiliation":[{"name":"Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily","family":"Gutter","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Children\u2019s Hospital of the King\u2019s Daughters, Norfolk, VA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia","family":"Proud","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Children\u2019s Hospital of the King\u2019s Daughters, Norfolk, VA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Long","family":"Li","sequence":"first","affiliation":[{"name":"Department of Surgery, Beijing Children\u2019s Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacqueline","family":"Pierre-Louis","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirk","family":"Aleck","sequence":"first","affiliation":[{"name":"St. Joseph\u2019s Hospital, CHC Phoenix Genetics Program, Phoenix, AZ"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ernest","family":"van Heurn","sequence":"first","affiliation":[{"name":"Surgical Unit, University Hospital, Maastricht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Belloni","sequence":"first","affiliation":[{"name":"IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, and IEO, Istituto Europero di Oncologia, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen W","family":"Scherer","sequence":"first","affiliation":[{"name":"Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul Kwong-hang","family":"Tam","sequence":"first","affiliation":[{"name":"Department of Surgery, Genome Research Center, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China"},{"name":"Department of Surgery, Genome Research Center, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2006,1,1]]},"reference":[{"key":"2020022801100977900_R1","doi-asserted-by":"crossref","unstructured":"Currarino G, Coln D, Votteler T. 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