Article
Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome.
Clinical chemistry - 1 Jan 2006
Garcia-Barceló Mercè, So Man-Ting, Lau Danny Ko-Chun, Leon Thomas Yuk-Yu, Yuan Zheng-Wei, Cai Wei-Song, Lui Vincent Chi-Hang, Fu Ming, Herbrick Jo-Anne, Gutter Emily, Proud Virginia, Li Long, Pierre-Louis Jacqueline, Aleck Kirk, van Heurn Ernest, Belloni Elena, Scherer Stephen W, Tam Paul Kwong-Hang
Abstract excerpt
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,...
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