Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis
نویسندگان
چکیده
منابع مشابه
Infantile myofibromatosis: a cause of vertebra plana.
A 6-week-old boy was seen in the emergency department with progressive enlargement of head and neck masses. Bilateral periauricular masses had been present since birth and had undergone recent cervical extension. A mass of the right nasolabial fold had been present since 3 weeks of age. The lesions were asymptomatic and the infant was otherwise well. Computed tomography (CT) of the head and nec...
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Retinitis pigmentosa (RP), a disease characterized by progressive loss of photoreceptors, exhibits significant genetic heterogeneity. Several genes associated with U4/U6-U5 triple small nuclear ribonucleoprotein (tri-snRNP) complex of the spliceosome have been implicated in autosomal dominant RP (adRP). HPrp4, encoded by PRPF4, regulates the stability of U4/U6 di-snRNP, which is essential for c...
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Retinitis pigmentosa (RP) shows progressive loss of photoreceptors involved with heterogeneous genetic background. Here, by exome sequencing and linkage analysis on a Chinese family with autosomal dominant RP, we identified a putative pathogenic variant, p.Gly97Arg, in the gene SPP2, of which expression was detected in multiple tissues including retina. The p.Gly97Arg was absent in 800 ethnical...
متن کاملInfantile myofibromatosis*
Infantile myofibromatosis is a mesenchymal disorder characterized by the fibrous proliferation of the skin, bone, muscle and viscera. It is the most common fibrous tumor in childhood. We present a newborn with skin and bone disease without visceral involvement, who showed good response to vinblastine and methotrexate. Clinical features, etiology, diagnosis, and treatment are reviewed.
متن کاملModulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG?
Infantile myofibromatosis is a rare genetic disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The molecular pathogenesis is still incompletely known. An autosomal dominant form had been reported as causally related with mutations in the gene for platelet-derived growth factor receptor beta (PDGFRB). We report here two siblings with infantile myof...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2013
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2013.04.024