A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy

Mutations in the TMEM70 gene are the most common cause of nuclear encoded ATP synthase deficiency resulting in a syndrome characterized by neonatal lactic acidosis, cardiomyopathy, and encephalomyopathy. Here we report on the first Turkish patient who presented after birth with lactic acidemia, seve...

Full description

Saved in:
Bibliographic Details
Published in:Gene 2013-02, Vol.515 (1), p.197-199
Main Authors: Atay, Zeynep, Bereket, Abdullah, Turan, Serap, Haliloglu, Belma, Memisoglu, Aslı, Khayat, Morad, Shalev, Stavit A., Spiegel, Ronen
Format: Article
Language:English
Subjects:
acidosis
Amino Acid Sequence
Base Sequence
biopsy
cardiomyopathy
cataract
Cataract - congenital
Cataract - diagnosis
Cataract - genetics
Congenital cataract
genes
genetic techniques and protocols
H-transporting ATP synthase
histidine
homozygosity
Homozygote
Humans
Hypertrophic cardiomyopathy
Infant, Newborn
Lactic acidosis
Male
Membrane Proteins - genetics
Mitochondrial Encephalomyopathies - diagnosis
Mitochondrial Encephalomyopathies - genetics
Mitochondrial Proteins - genetics
Molecular Sequence Data
muscles
Mutation
patients
phenotype
Sequence Alignment
Syndrome
TMEM70
Turkey
tyrosine
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Mutations in the TMEM70 gene are the most common cause of nuclear encoded ATP synthase deficiency resulting in a syndrome characterized by neonatal lactic acidosis, cardiomyopathy, and encephalomyopathy. Here we report on the first Turkish patient who presented after birth with lactic acidemia, severe hpotonia, hypertrophic cardiomyopathy and bilateral congenital cataract. TMEM70 genetic analysis revealed the causative homozygous c.535C>T novel mutation that result in substitution of a highly conserved tyrosine into histidine at position 179. In this report we focused on a detailed description of the clinical features of this syndrome with special emphasis on the typical facial dysmorphic features. Our report underscores TMEM70 deficiency as a pan-ethnic well defined phenotype. In cases with high suspicion sequencing of TMEM70 should be performed even before the traditional invasive muscle biopsy to confirm the diagnosis. ► We describe a new affected individual with TMEM70 deficiency. ► We present the first Turkish patient with the novel mutation c.535C>T. ► We describe in detail the typical facial dysmorphism of TMEM70 deficiency syndrome. ► We include congenital cataract in the clinical spectrum of TMEM70 deficiency.
ISSN:0378-1119
1879-0038
DOI:10.1016/j.gene.2012.11.044