title: A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy.
abstract: 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.
authors.affiliation: Department of Pediatric Endocrinology, School of Medicine, Marmara University, İstanbul, Turkey.
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Atay
authors.forename: Abdullah
authors.initials: A
authors.lastname: Bereket
authors.forename: Serap
authors.initials: S
authors.lastname: Turan
authors.forename: Belma
authors.initials: B
authors.lastname: Haliloglu
authors.forename: Aslı
authors.initials: A
authors.lastname: Memisoglu
authors.forename: Morad
authors.initials: M
authors.lastname: Khayat
authors.forename: Stavit A
authors.initials: SA
authors.lastname: Shalev
authors.forename: Ronen
authors.initials: R
authors.lastname: Spiegel
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002386:Cataract / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D016415:Sequence Alignment; D013577:Syndrome; D014421:Turkey
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; C533106:TMEM70 protein, human