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. 2002 Dec 1;113(3):298-301.
doi: 10.1002/ajmg.10753.

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

Wilmer Delgado Luengo  1 , Augusto Rojas Martínez, Rocío Ortíz López, Caridad Martínez Basalo, Alicia Rojas-Atencio, Maribel Quintero, Lisbeth Borjas, Alisandra Morales-Machín, Sandra González Ferrer, Lennie Pineda Bernal, Jenny Cañizalez-Tarazona, Joaquín Peña, Juana Delgado Luengo, José Chacín Hernández, José Chong Chang
Affiliations

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

Wilmer Delgado Luengo et al. Am J Med Genet. .

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:beta-N-acetylglucosamina-beta-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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