X-linked dyskeratosis congenita with pancytopenia

Abstract

Two maternal male cousins in a Jewish Iraqi kindred were affected with dyskeratosis congenita and had a megaloblastic bone marrow. One cousin had pancytopenia and the other had thrombocytopenia. The kindred displays a deficiency of glucose-6-phosphate dehydrogenase (G6PD) and a beta-thalassemia trait. The following genetic "markers" of the X chromosome were studied: G6PD, the X-linked blood groups Xg, and color vision. Linkage analysis indicated that dyskeratosis, G6PD, and Xg are far apart on the X chromosome. Chromosomal studies showed a 46XY karyotype in both cases; however, nonspecific numerical aberrations and structural abnormalities were found in the first and in the second case, polyploidy was seen in four of 60 cells. The proband's cultured fibroblasts did not show increased susceptibility to malignant transformation by simian virus 40, an oncogenic virus.

Dyskeratosis congenita. Report of a large kindred

“…Its more serious features, however, are bone marrow hypofunction and a high risk of malignant disease. It was first described by Zinsser (1910) and there have ro date been fifty-three well documented cases (Gutman et al, 1978). Sirinavin & Trowbridge (1975) have reviewed these cases and noted that onset was usually before puberty with skin or nail changes as the presenting feature.…”

Dyskeratosis Congenita Associated with Elevated Fetal Hemoglobin, X‐Linked Ocular Albinism, and Juvenile‐Onset Diabetes Mellitus

“…Levels of HbF were elevated in 15 reported cases of dyskeratosis congenita (9-21). Of this group, all of the cases that were pedigrees in which patterns of inheritance could be determined demonstrated X-linked inheritance (10,12,13,16,17). The average HbF for 12 of these patients was 9.5% and the range was 3.0% to 29.6%.…”

Dyskeratosis congenita with linear areas of severe cutaneous involvement

“…However, these abnormalities have not been found in all of the cases [Scappaticci et al, 1989;Juneja et al, 1987;Womer et al, 1983;Connor and Teague, 1981;Gutman et al, 1978;Sirinavin and Trowbridge, 1975;Schroeder and Hofbauer, 1975;Inoue et al, 1973]. Results from cytogenetic studies of skin fibroblasts are more uniform and in most of the published studies spontaneous unbalanced chromosomal rearrangements have been found [Scappaticci et al, 1989;Dokal et al, 1992].…”