The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F67985823%3A_____%2F16%3A00469548" target="_blank" >RIV/67985823:_____/16:00469548 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/16:10329593 RIV/00064165:_____/16:10329593

Result on the web

<a href="http://dx.doi.org/10.1136/jmedgenet-2016-103910" target="_blank" >http://dx.doi.org/10.1136/jmedgenet-2016-103910</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1136/jmedgenet-2016-103910" target="_blank" >10.1136/jmedgenet-2016-103910</a>

Result language

angličtina

Original language name

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

Original language description

Mutations in the RMND1 (Required for Meiotic Nuclear Division protein 1) gene have recently been linked to infantile onset mitochondrial disease characterised by multiple mitochondrial respiratory chain defects. We identified 14 new cases from 11 pedigrees that harbour recessive RMND1 mutations, including 6 novel variants. Together with all previously published cases (n=32), we show that congenital sensorineural deafness, hypotonia, developmental delay and lactic acidaemia are common clinical manifestations with disease onset under 2 years. Renal involvement is more prevalent than seizures (66% vs 44%). In addition, median survival time was longer in patients with renal involvement compared with those without renal disease (6 years vs 8 months, p=0.009). The neurological phenotype also appears milder in patients with renal involvement. We can conclude that the clinical phenotypes and prognosis associated with RMND1 mutations are more heterogeneous than that were initially described. Regular monitoring of kidney function is imperative in the clinical practice in light of nephropathy being present in over 60% of cases. Furthermore, renal replacement therapy should be considered particularly in those patients with mild neurological manifestation as shown in our study that four recipients of kidney transplant demonstrate good clinical outcome to date.

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

EB - Genetics and molecular biology

OECD FORD branch

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Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2016

Confidentiality

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

Name of the periodical

Journal of Medical Genetics

ISSN

0022-2593

e-ISSN

—

Volume of the periodical

53

Issue of the periodical within the volume

11

Country of publishing house

GB - UNITED KINGDOM

Number of pages

8

Pages from-to

768-775

UT code for WoS article

000387977600008

EID of the result in the Scopus database

2-s2.0-84978870767