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Curriano's triad?answer with more detailsFrom: Emilio Porro (sanbonav@hotmail.com)Mon Jul 1 06:26:31 2002
I have found more details always with http://www.google.com Yours faithfully Emilio Porro ObGyn MD Como Italy http://www.sanbonaventura.com Molecular genetics and cell biology of inherited disease Characterisation of the causative gene for Currarino Syndrome Dr S Lindsay Dr SA Lynch Professor T Strachan We mapped the gene for a form of dominantly inherited sacral agenesis (Currarino Syndrome) to the long arm of chromosome 7 and have recently identified the causative gene, HLXB9 (1,2). Currarino Syndrome is a form of neural tube defect which affects caudal development, primarily the sacrum and hindgut. We have carried out an extensive mutation analysis of this gene in familial and sporadic Currarino Triad and related disorders as well as characterising its expression during human development (3). We are now carrying out studies aimed at analysing its regulation with the long-term goals of determining its function and understanding its role in normal development as well as the mechanisms underlying its involvement in the Currarino Syndrome disease phenotype. 1.. Lynch S, Bond PM, Copp AJ, Kirwan WO, Nour S, Balling R, Mariman E, Burn J and Strachan T (1995) A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. Nature Genet. 11: 93-95. 2.. Ross A, Ruiz Perez V, Wang Y, Hagan DM, Scherer S, Lynch S, Custard E et al (1998) A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nature Genet 20: 358-361. 3.. Hagan DM, Ross AJ, Strachan T, Lynch SA, Ruiz-Perez V, Wang YM, Scambler P et al (2000) Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. Am. J. Hum. Genet. 66: 1504-1515.
>----- Original Message -----
> I was called by a colleague for GYN management ideas in a patient with
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