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.

J 2013

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.

EZGU, Fatih, Pavel KREJČÍ a William R. WILCOX

Základní údaje

Originální název

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.

Autoři

EZGU, Fatih (840 Spojené státy), Pavel KREJČÍ (203 Česká republika, garant, domácí) a William R. WILCOX (840 Spojené státy)

Vydání

Gene, Amsterdam, Elsevier, 2013, 0378-1119

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30105 Physiology

Stát vydavatele

Nizozemské království

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 2.082

Kód RIV

RIV/00216224:14310/13:00068826

Organizační jednotka

Přírodovědecká fakulta

DOI

http://dx.doi.org/10.1016/j.gene.2013.03.026

UT WoS

000321027400049

Klíčová slova anglicky

Fumarase; FH gene; oncogene; cancer; mutation

Štítky

AKR, rivok

Změněno: 7. 4. 2014 21:48, Ing. Andrea Mikešková

Anotace

V originále

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 "non-classical" 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.

Citovat

EZGU, Fatih, Pavel KREJČÍ a William R. WILCOX. 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. Gene. Amsterdam: Elsevier, 2013, roč. 524, č. 2, s. 403-406. ISSN 0378-1119. Dostupné z: https://dx.doi.org/10.1016/j.gene.2013.03.026.

@article{1115833,
   author = {Ezgu, Fatih and Krejčí, Pavel and Wilcox, William R.},
   article_location = {Amsterdam},
   article_number = {2},
   doi = {http://dx.doi.org/10.1016/j.gene.2013.03.026},
   keywords = {Fumarase; FH gene; oncogene; cancer; mutation},
   language = {eng},
   issn = {0378-1119},
   journal = {Gene},
   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.},
   volume = {524},
   year = {2013}
}

TY  - JOUR
ID  - 1115833
AU  - Ezgu, Fatih - Krejčí, Pavel - Wilcox, William R.
PY  - 2013
TI  - 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.
JF  - Gene
VL  - 524
IS  - 2
SP  - 403-406
EP  - 403-406
PB  - Elsevier
SN  - 03781119
KW  - Fumarase
KW  - FH gene
KW  - oncogene
KW  - cancer
KW  - mutation
N2  - 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 "non-classical" 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.
ER  -

EZGU, Fatih, Pavel KREJČÍ a William R. WILCOX. 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. \textit{Gene}. Amsterdam: Elsevier, 2013, roč.~524, č.~2, s.~403-406. ISSN~0378-1119. Dostupné z: https://dx.doi.org/10.1016/j.gene.2013.03.026.

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