Del(1)(q23) in a patient with Hutchinson-Gilford progeria.
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.
Delgado Luengo
Wilmer
W
Unidad de Genética Médica, Facultad de Medicina de La Universidad del Zulia, Maracaibo, Venezuela. lisbor@iamnet.com
Rojas Martínez
Augusto
A
Ortíz López
Rocío
R
Martínez Basalo
Caridad
C
Rojas-Atencio
Alicia
A
Quintero
Maribel
M
Borjas
Lisbeth
L
Morales-Machín
Alisandra
A
González Ferrer
Sandra
S
Pineda Bernal
Lennie
L
Cañizalez-Tarazona
Jenny
J
Peña
Joaquín
J
Delgado Luengo
Juana
J
Chacín Hernández
José
J
Chong Chang
José
J
D002648:Child; D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1; D006801:Humans; D007621:Karyotyping; D008297:Male; D011371:Progeria / Q000235:genetics* / Q000503:physiopathology; D017384:Sequence Deletion