title: Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations.
abstract: We report on a 2-year-old Japanese boy with early-onset pulmonary emphysema, exhibiting dysmorphic face, loose skin, and inguinal and Morgagni hernias. He was admitted to our hospital owing to refractory respiratory infection. On the basis of his clinical features, we investigated the SLC2A10 gene and identified novel compound heterozygous mutations of c.417T > A and c.692G > A, leading to the diagnosis of artery tortuosity syndrome (ATS). This syndrome is an extremely rare autosomal recessive disorder characterized by tortuosity and elongation of the large and medium-sized arteries, hyperextensible skin, and diverse hernias, mostly reported from Europe and Middle Eastern countries, but not from Asia. Although chronic obstructive pulmonary disease, namely, emphysema, has not been well documented in ATS, it may be likely because TGF-beta up-regulation is known to be evoked by SLC2A10 mutations, resulting in reconstruction of pulmonary endothelial cells and emphysema. This is the first report of ATS associated with early-onset pulmonary emphysema, suggesting that patients with ATS may also require close attention for chronic obstructive pulmonary disease.
authors.affiliation: Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan. honda-sag@umin.ac.jp
authors.forename: Yoshiko
authors.initials: Y
authors.lastname: Takahashi
authors.forename: Katsunori
authors.initials: K
authors.lastname: Fujii
authors.forename: Akiko
authors.initials: A
authors.lastname: Yoshida
authors.forename: Hiroko
authors.initials: H
authors.lastname: Morisaki
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Kohno
authors.forename: Takayuki
authors.initials: T
authors.lastname: Morisaki
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D001158:Arteries / Q000002:abnormalities*; D001483:Base Sequence; D002675:Child, Preschool; D005091:Exons; D051246:Glucose Transport Proteins, Facilitative / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008168:Lung / Q000000981:diagnostic imaging / Q000473:pathology; D008297:Male; D009154:Mutation; D011656:Pulmonary Emphysema / Q000175:diagnosis / Q000235:genetics*; D011859:Radiography; D013577:Syndrome
chemical_list: D051246:Glucose Transport Proteins, Facilitative; C430746:SLC2A10 protein, human