EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features
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منابع مشابه
EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features
The epidermal growth factor receptor (EGFR) is part of a large family of receptors required for communicating extracellular signals through internal tyrosine kinases. Epidermal growth factor (EGF) signaling is required for tissue development, whereas constitutive activation of this signaling pathway is associated with oncogenic transformation. We identified homozygous c.1283G>A (p.Gly428Asp) mu...
متن کاملA maternally transmitted lethal neonatal progeroid syndrome with prominent genitourinary and gastrointestinal features.
Twin brothers and their maternal uncle with a previously undescribed neonatal progeroid syndrome are presented. In addition to progeroid features, they had pseudo-obstruction of the urinary and gastrointestinal tracts, severe leucocytosis, liver dysfunction, and low complex III and IV in muscle but not in liver. Previously described neonatal progeroid syndromes and syndromes featuring pseudo-ob...
متن کاملMutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome
Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the "molar tooth sign"), and variable multiorgan involvement. To date, 24 genes have been found mutated in Joubert syndrome, of which 13 also cause Meckel syndrome, a lethal ciliopathy with kidney, liver and skeletal involvement. Here we describe four patie...
متن کاملCan mitochondrial DNA mutations cause sperm dysfunction?
Very low levels of somatic mitochondrial (mt)DNA deletions have been identified in the semen of infertile men. It has been suggested that these mutations cause infertility through an effect on sperm motility, but there has been no direct evidence to show that mutant mtDNA can affect sperm function. We have carried out semen analysis on a male harbouring the A3243G mtDNA mutation and show that h...
متن کاملFilamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
OBJECTIVE To define the clinical, radiologic, and genetic features of periventricular heterotopia (PH) with Ehlers-Danlos syndrome (EDS). METHODS Exonic sequencing and single stranded conformational polymorphism (SSCP) analysis was performed on affected individuals. Linkage analysis using microsatellite markers on the X-chromosome was performed on a single pedigree. Western blotting evaluated...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2015
ISSN: 2324-9269,2324-9269
DOI: 10.1002/mgg3.156