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- Title
Achalasia as a symptom guide in MIRAGE syndrome: A novel case with p.R1293Q and p.R902W variants in the SAMD9 gene.
- Authors
Baquedano‐Lobera, Irene; Romero‐Salas, Yolanda; Ros‐Arnal, Ignacio; Miramar‐Gallart, María Dolores; López‐Pisón, Javier; Corona‐Bellostas, Carolina; García‐Romero, Ruth
- Abstract
MIRAGE syndrome (MIM,617053) was proposed in 2016 to define a multisystemic syndrome of autosomal dominant inheritance caused by mutations in the I SAMD9 i gene, with prevalence lower than 1/1 000 000. Treatment is symptomatic; but the syndrome is frequently fatal early in life due to invasive infections.2 A 7-year-old female patient presented esophageal dysphagia and delayed growth (17 kg: <P1, -2.60DE; and 115.5 cm: P3, -1.83DE). Two patients with MIRAGE syndrome lacking haematological features: role of somatic second site reversion SAMD9 mutations.
- Subjects
ESOPHAGEAL achalasia; GENES; OPTICAL illusions; ESOPHAGEAL motility; SYMPTOMS; SYNDROMES; EXOMES; RECESSIVE genes
- Publication
Clinical Genetics, 2021, Vol 99, Issue 5, p740
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.13914