Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia

Congenital multiple intestinal atresia is a fatal disorder affecting newborn infants, with the occurrence of numerous obstructions in the small and large intestines, sometimes associated with severe immune deficiency. A genetic origin for the disease was suspected but until now no specific gene had been identified. By performing genome-wide sequencing of DNA from five affected children we found mutations in the gene TTC7A that are likely to cause the disease.  Previously little was known about this gene: now, by further studying the gene’s function we hope to gain a deeper understanding of the biology of this devastating disease. (By Dr. Bruno Maranda, http://jmg.bmj.com/content/early/2013/02/18/jmedgenet-2012-101483 )

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