期刊
MOLECULAR GENETICS AND METABOLISM
卷 95, 期 1-2, 页码 31-38出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2008.06.006
关键词
PC deficiency; lactic acidosis; brain metabolism; developmental encephalopathy
资金
- Colleen Giblin Foundations [K12-NS01698]
- RPB, Inc
- [NS37949]
- [1 UL1 RR024156-01]
- NATIONAL CENTER FOR RESEARCH RESOURCES [UL1RR024156] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [K12NS001698, R01NS037949] Funding Source: NIH RePORTER
Pyruvate carboxylase (PC) deficiency (OMIM, 266150) is a rare autosomal recessive disease. The revised PC gene structure described in this report consists of 20 coding exons and four non-coding exons at the 5'-untranslated region (5'-UTR). The gene codes for three transcripts due to alternative splicing: variant I (NM_000920.3), variant 2 (NM_022172.2) and variant 3 (BC011617.2). PC deficiency is manifested by three clinical phenotypes-an infantile form (Type A), a neonatal form (Type B), and a benign form (Type Q. We report the molecular basis for eight cases (one Type A, five Type B and two Type Q of PC deficiency. Eight novel complex mutations were identified representing different combinations of missense mutations, deletions, a splice site substitution and a nonsense mutation. The classical phenotypes (A, B and Q correlated poorly with clinical outcomes. Mosaicism, was found in five cases (one Type A, three Type B and one Type Q and four of these cases had prolonged survival. Death in the fifth case resulted from unrelated medical complications. The discrepancy between the current findings and the existing classification system should be addressed to accommodate these new observations. (C) 2008 Elsevier Inc. All rights reserved.
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