| | |  | | | | Record from Web of Science® | | | | | | |
| Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency |
|
|
| Author(s): Hirschhorn R, Yang DRX, Puck JM, Huie ML, Jiang CK, Kurlandsky LE |
| Source: NATURE GENETICS Volume: 13 Issue: 3 Pages: 290-295 Published: JUL 1996 |
| Times Cited: 121 References: 28 |
| Abstract: Somatic mosaicism in genetic disease generally results from a de novo deleterious mutation during embryogenesis. We now describe a somatic mosaicism due to the unusual mechanism of in vivo reversion to normal of an inherited mutation. The propositus was an adenosine deaminase-deficient (ADA(-)) child with progressive clinical improvement and unexpectedly mild biochemical and immunologic abnormalities. Mosaicism due to reversion was evidenced by absence of a maternally transmitted deleterious mutation in 13/15 authenticated B cell lines and in 17% of single alleles cloned from blood DNA, despite retention of a maternal 'private' ADA polymorphism linked to the mutation. Establishment of significant somatic mosaicism following reversion to normal could modify any disorder in which revertant cells have a selective advantage. |
| Document Type: Article |
| Language: English |
| Reprint Address: Hirschhorn, R (reprint author), NYU, SCH MED, DEPT MED, DIV MED GENET, 550 1ST AVE, NEW YORK, NY 10016 USA |
Addresses:
1. NIH, NATL CTR HUMAN GENOME RES, BETHESDA, MD 20892 USA
2. MICHIGAN STATE UNIV, COLL HUMAN MED, DEPT PEDIAT & HUMAN DEV, GRAND RAPIDS, MI 49546 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: UU283 |
| ISSN: 1061-4036 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |