Hearing impairment and renal failure associated with RMND1 mutations

Research output: Contribution to journal › Journal article › Research › peer-review

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Hearing impairment and renal failure associated with RMND1 mutations. / Ravn, Kirstine; Neland, Mette; Wibrand, Flemming; Duno, Morten; Ostergaard, Elsebet.

In: American Journal of Medical Genetics. Part A, Vol. 170, No. 1, 01.2016, p. 142-147.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Ravn, K, Neland, M, Wibrand, F, Duno, M & Ostergaard, E 2016, 'Hearing impairment and renal failure associated with RMND1 mutations', American Journal of Medical Genetics. Part A, vol. 170, no. 1, pp. 142-147. https://doi.org/10.1002/ajmg.a.37399

APA

Ravn, K., Neland, M., Wibrand, F., Duno, M., & Ostergaard, E. (2016). Hearing impairment and renal failure associated with RMND1 mutations. American Journal of Medical Genetics. Part A, 170(1), 142-147. https://doi.org/10.1002/ajmg.a.37399

Vancouver

Ravn K, Neland M, Wibrand F, Duno M, Ostergaard E. Hearing impairment and renal failure associated with RMND1 mutations. American Journal of Medical Genetics. Part A. 2016 Jan;170(1):142-147. https://doi.org/10.1002/ajmg.a.37399

Author

Ravn, Kirstine ; Neland, Mette ; Wibrand, Flemming ; Duno, Morten ; Ostergaard, Elsebet. / Hearing impairment and renal failure associated with RMND1 mutations. In: American Journal of Medical Genetics. Part A. 2016 ; Vol. 170, No. 1. pp. 142-147.

Bibtex

@article{4df64130d8a647b1b6c0dc5541d49877,

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.",

keywords = "Adolescent, Amino Acid Sequence, Cell Cycle Proteins, Child, Child, Preschool, Female, Hearing Loss, Humans, Infant, Infant, Newborn, Male, Mitochondria, Mitochondrial Diseases, Molecular Sequence Data, Mutation, Pedigree, Protein Biosynthesis, Renal Insufficiency, Sequence Homology, Amino Acid, Case Reports",

author = "Kirstine Ravn and Mette Neland and Flemming Wibrand and Morten Duno and Elsebet Ostergaard",

note = "{\textcopyright} 2015 Wiley Periodicals, Inc.",

year = "2016",

month = jan,

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

PY - 2016/1

Y1 - 2016/1

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.

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.

KW - Adolescent

KW - Amino Acid Sequence

KW - Cell Cycle Proteins

KW - Child

KW - Child, Preschool

KW - Female

KW - Hearing Loss

KW - Humans

KW - Infant

KW - Infant, Newborn

KW - Male

KW - Mitochondria

KW - Mitochondrial Diseases

KW - Molecular Sequence Data

KW - Mutation

KW - Pedigree

KW - Protein Biosynthesis

KW - Renal Insufficiency

KW - Sequence Homology, Amino Acid

KW - Case Reports

U2 - 10.1002/ajmg.a.37399

DO - 10.1002/ajmg.a.37399

M3 - Journal article

C2 - 26395190

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: 173809690