Hearing impairment and renal failure associated with RMND1 mutations
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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
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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 - 2016/1
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