Fumarase deficiency in dichorionic diamniotic twins

Tregoning, S., Salter, W., Thorburn, D.R., Durkie, M., Panayi, M., Wu, J.Y., Easterbrook, A. and Coman, D.J. (2013) Fumarase deficiency in dichorionic diamniotic twins. Twin Research and Human Genetics, 16 6: 1117-1120. doi:10.1017/thg.2013.72


Author Tregoning, S.
Salter, W.
Thorburn, D.R.
Durkie, M.
Panayi, M.
Wu, J.Y.
Easterbrook, A.
Coman, D.J.
Title Fumarase deficiency in dichorionic diamniotic twins
Journal name Twin Research and Human Genetics   Check publisher's open access policy
ISSN 1832-4274
1839-2628
Publication date 2013
Sub-type Article (original research)
DOI 10.1017/thg.2013.72
Open Access Status
Volume 16
Issue 6
Start page 1117
End page 1120
Total pages 4
Place of publication Cambridge, ENgland, U.K.
Publisher Cambridge University Press
Collection year 2014
Language eng
Subject 2716 Genetics (clinical)
2729 Obstetrics and Gynaecology
2735 Pediatrics, Perinatology, and Child Health
Abstract Fumarase deficiency is a rare autosomal recessive inborn error of metabolism of the Krebs Tricarboxylic Acid cycle. A heavy neurological disease burden is imparted by fumarase deficiency, commonly manifesting as microcephaly, dystonia, global developmental delay, seizures, and lethality in the infantile period. Heterozygous carriers also carry an increased risk of developing hereditary leiomyomatosis and renal cell carcinoma. We describe a non-consanguineous family in whom a dichorionic diamniotic twin pregnancy resulted in twin boys with fumarase deficiency proven at the biochemical, enzymatic, and molecular levels. Their clinical phenotype included hepatic involvement. A novel mutation in the fumarate hydratase gene was identified in this family.
Keyword Dichorionic diamniotic
Fumarase deficiency
Hepatomegaly
Krebs tricarboxylic acid cycle
Leiomyomatosis
Renal cell carcinoma
Q-Index Code CX
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Non HERDC
School of Medicine Publications
 
Versions
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 0 times in Thomson Reuters Web of Science Article
Scopus Citation Count Cited 0 times in Scopus Article
Google Scholar Search Google Scholar
Created: Tue, 17 Dec 2013, 00:31:35 EST by System User on behalf of School of Medicine