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.

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F13%3A00068826" target="_blank" >RIV/00216224:14310/13:00068826 - isvavai.cz</a>

Alternative codes found

RIV/68081707:_____/13:00440590

Result on the web

<a href="http://dx.doi.org/10.1016/j.gene.2013.03.026" target="_blank" >http://dx.doi.org/10.1016/j.gene.2013.03.026</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.gene.2013.03.026" target="_blank" >10.1016/j.gene.2013.03.026</a>

Result language

angličtina

Original language name

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.

Original language 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 "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&gt;T) mutation. The patient had an unusually mild clinical course without ac

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

ED - Physiology

OECD FORD branch

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Project

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Continuities

S - Specificky vyzkum na vysokych skolach

Publication year

2013

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Gene

ISSN

0378-1119

e-ISSN

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Volume of the periodical

524

Issue of the periodical within the volume

2

Country of publishing house

NL - THE KINGDOM OF THE NETHERLANDS

Number of pages

4

Pages from-to

403-406

UT code for WoS article

000321027400049

EID of the result in the Scopus database

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