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Statements

Subject Item
n2:RIV%2F68081707%3A_____%2F13%3A00440590%21RIV15-AV0-68081707
rdf:type
n12:Vysledek skos:Concept
dcterms:description
Mutations in the FH gene cause the deficiency of the enzyme fumarase (fumarate hydratase, EC 4.2.1.2) which result in autosomal recessive fumaric aciduria in early childhood with failure to thrive, seizures, developmental delay, mental retardation, hypotonia and sometimes with polycythemia, leukopenia, and neutropenia. Many children with fumarate hydratase deficiency do not survive infancy or childhood; those surviving beyond childhood have severe psychomotor retardation. Recently, FH gene was also identified as a %22non-classical%22 tumor suppressor gene and heterozygous mutations were shown to cause multiple cutaneous and uterine leiomyomas as well as hereditary leiomyomatosis and renal cell cancer. A male patient who was referred to investigate the etiology of psychomotor retardation was later diagnosed to have fumaric aciduria due to the combination of a previously known (c.1431_1433dupAAA) and a novel (c.782G>T) mutation. The patient had an unusually mild clinical course without acidotic attacks. Interestingly his father who was heterozygous for the c.1431_1433dupAAA mutation in the FH gene had cutaneous leiomyoma. (C) 2013 Elsevier B.V. All rights reserved. Mutations in the FH gene cause the deficiency of the enzyme fumarase (fumarate hydratase, EC 4.2.1.2) which result in autosomal recessive fumaric aciduria in early childhood with failure to thrive, seizures, developmental delay, mental retardation, hypotonia and sometimes with polycythemia, leukopenia, and neutropenia. Many children with fumarate hydratase deficiency do not survive infancy or childhood; those surviving beyond childhood have severe psychomotor retardation. Recently, FH gene was also identified as a %22non-classical%22 tumor suppressor gene and heterozygous mutations were shown to cause multiple cutaneous and uterine leiomyomas as well as hereditary leiomyomatosis and renal cell cancer. A male patient who was referred to investigate the etiology of psychomotor retardation was later diagnosed to have fumaric aciduria due to the combination of a previously known (c.1431_1433dupAAA) and a novel (c.782G>T) mutation. The patient had an unusually mild clinical course without acidotic attacks. Interestingly his father who was heterozygous for the c.1431_1433dupAAA mutation in the FH gene had cutaneous leiomyoma. (C) 2013 Elsevier B.V. All rights reserved.
dcterms:title
Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene
skos:prefLabel
Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene
skos:notation
RIV/68081707:_____/13:00440590!RIV15-AV0-68081707
n3:aktivita
n15:S n15:I
n3:aktivity
I, S
n3:cisloPeriodika
2
n3:dodaniDat
n6:2015
n3:domaciTvurceVysledku
n10:5512646
n3:druhVysledku
n14:J
n3:duvernostUdaju
n5:S
n3:entitaPredkladatele
n16:predkladatel
n3:idSjednocenehoVysledku
88376
n3:idVysledku
RIV/68081707:_____/13:00440590
n3:jazykVysledku
n13:eng
n3:klicovaSlova
Fumaric aciduria; Novel mutation; Leiomyoma
n3:klicoveSlovo
n4:Novel%20mutation n4:Leiomyoma n4:Fumaric%20aciduria
n3:kodStatuVydavatele
NL - Nizozemsko
n3:kontrolniKodProRIV
[668694D99103]
n3:nazevZdroje
Gene
n3:obor
n17:BO
n3:pocetDomacichTvurcuVysledku
1
n3:pocetTvurcuVysledku
3
n3:rokUplatneniVysledku
n6:2013
n3:svazekPeriodika
524
n3:tvurceVysledku
Krejčí, Pavel Ezgu, F. Wilcox, W. R.
n3:wos
000321027400049
s:issn
0378-1119
s:numberOfPages
4
n7:doi
10.1016/j.gene.2013.03.026