Del(1)(q23) in a patient with Hutchinson‐Gilford progeria

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Abstract
A 9‐year‐old patient with the classical clinical picture of Hutchinson‐Gilford progeria (HGP) is described. The karyotype shows a 46,XY,del(1)(q23) constitution. Our findings suggest that the interval 1q23 may play a roll in the etiology of HGP. A perturbation in glycosylation in connective tissue has been demonstrated in patients with this condition. This abnormality may be due to a defect in the UDP‐galactose:β‐N‐acetylglucosamina‐β‐1,4‐galactosyltransferase 3 (B4GALT3) gene that has been mapped in the interval 1q21‐23. The cytogenetical analyses of this patient suggest that the B4GALT3 gene could be involved in the pathogenesis of HGP.

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