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Hearing impairment and renal failure associated with RMND1 mutations

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@article{87870a23dc56484fa12d5bad94aa6659,
title = "Hearing impairment and renal failure associated with RMND1 mutations",
abstract = "Recently, two research groups reported that mutations in RMND1 were associated with encephalopathy, elevated lactate, hypotonia, and in some patients seizures or myoclonia in individuals from two consanguineous families. A combined respiratory chain deficiency and a defect in mitochondrial protein translation was found. In this study, we report two siblings who are compound heterozygous for the mutations, c.713A>G and c.1003delG, in RMND1. Respiratory chain enzymatic analysis and BN-PAGE showed a combined OXPHOS deficiency. Western blot analysis indicated normal levels of RMND1, but the assembly of the RMND1 homopolymeric complex was highly impaired. The two siblings had a markedly milder phenotype and longer survival compared to previously reported patients. In addition, they had renal failure and hearing impairment. These two newly described patients contribute to delineation of the clinical spectrum associated with RMND1 aberrations. {\circledC} 2015 Wiley Periodicals, Inc.",
author = "Kirstine Ravn and Mette Neland and Flemming Wibrand and Morten Duno and Elsebet Ostergaard",
note = "{\circledC} 2015 Wiley Periodicals, Inc.",
year = "2016",
doi = "10.1002/ajmg.a.37399",
language = "English",
volume = "170",
pages = "142--147",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "JohnWiley & Sons, Inc",
number = "1",

}

RIS

TY - JOUR

T1 - Hearing impairment and renal failure associated with RMND1 mutations

AU - Ravn, Kirstine

AU - Neland, Mette

AU - Wibrand, Flemming

AU - Duno, Morten

AU - Ostergaard, Elsebet

N1 - © 2015 Wiley Periodicals, Inc.

PY - 2016

Y1 - 2016

N2 - Recently, two research groups reported that mutations in RMND1 were associated with encephalopathy, elevated lactate, hypotonia, and in some patients seizures or myoclonia in individuals from two consanguineous families. A combined respiratory chain deficiency and a defect in mitochondrial protein translation was found. In this study, we report two siblings who are compound heterozygous for the mutations, c.713A>G and c.1003delG, in RMND1. Respiratory chain enzymatic analysis and BN-PAGE showed a combined OXPHOS deficiency. Western blot analysis indicated normal levels of RMND1, but the assembly of the RMND1 homopolymeric complex was highly impaired. The two siblings had a markedly milder phenotype and longer survival compared to previously reported patients. In addition, they had renal failure and hearing impairment. These two newly described patients contribute to delineation of the clinical spectrum associated with RMND1 aberrations. © 2015 Wiley Periodicals, Inc.

AB - Recently, two research groups reported that mutations in RMND1 were associated with encephalopathy, elevated lactate, hypotonia, and in some patients seizures or myoclonia in individuals from two consanguineous families. A combined respiratory chain deficiency and a defect in mitochondrial protein translation was found. In this study, we report two siblings who are compound heterozygous for the mutations, c.713A>G and c.1003delG, in RMND1. Respiratory chain enzymatic analysis and BN-PAGE showed a combined OXPHOS deficiency. Western blot analysis indicated normal levels of RMND1, but the assembly of the RMND1 homopolymeric complex was highly impaired. The two siblings had a markedly milder phenotype and longer survival compared to previously reported patients. In addition, they had renal failure and hearing impairment. These two newly described patients contribute to delineation of the clinical spectrum associated with RMND1 aberrations. © 2015 Wiley Periodicals, Inc.

U2 - 10.1002/ajmg.a.37399

DO - 10.1002/ajmg.a.37399

M3 - Journal article

VL - 170

SP - 142

EP - 147

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 1

ER -

ID: 45844722