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

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Hussain, K. et al.

Hussain, Bitner-Glindzicz, Blaydon, Lindley, Thompson, Kriss, Rajput, Ramadan, Al-Mazidi, Cosgrove, Dunne, Aynsley-Green,

Infantile hyperinsulinism associated with enteropathy, deafness and renal tubulopathy: clinical manifestations of a syndrome caused by a contiguous gene deletion located on chromosome 11p.

We describe the clinical features of a new syndrome causing hyperinsulinism in infancy (HI), severe enteropathy, profound sensorineural deafness, and renal tubulopathy in three children born to two pairs of consanguineous parents. This combination of clinical features is explained by a 122-kb contiguous gene deletion on the short arm of chromosome 11. It deletes 22 of the 39 exons of the gene coding for the SUR1 component of the KATP channel on the pancreatic beta-cell thereby causing severe HI. It also deletes all but two of the 28 exons of the USH1C gene, which causes Usher syndrome and is important for the normal development and function of the ear and the eye, the gastrointestinal tract, and the kidney, thereby accounting for the symptoms of deafness, vestibular dysfunction and retinal dystrophy seen in type 1 Usher syndrome, diarrhoea, malabsorption, and tubulopathy. This contiguous gene deletion provides important insights into the normal development of several body organ systems.[1]

References

Infantile hyperinsulinism associated with enteropathy, deafness and renal tubulopathy: clinical manifestations of a syndrome caused by a contiguous gene deletion located on chromosome 11p. Hussain, K., Bitner-Glindzicz, M., Blaydon, D., Lindley, K.J., Thompson, D.A., Kriss, T., Rajput, K., Ramadan, D.G., Al-Mazidi, Z., Cosgrove, K.E., Dunne, M.J., Aynsley-Green, A. Journal of pediatric endocrinology & metabolism : JPEM. (2004) [Pubmed]

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