Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR
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چکیده
#201750). FGFR2 mutations show variable clinical penetrance and patients with the same FGFR2 mutation can exhibit diverse clinical features. Therefore, FGFR2-related craniosynostosis syndromes are usually named according to the accompanying extra-cranial manifestations. ABS is a rare type of craniosynostosis syndrome. ABS is typically distinguished by systemic bony fusions of skull sutures and other joints. Skeletal manifestations include radiohumeral or radioulnar synostosis, arachnodactyly, multiple joint contractures, and bowing of the femora. Mid-face hypoplasia Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR
منابع مشابه
[Antley-Bixler syndrome or POR deficiency?].
Antley-Bixler syndrome (ABS) is a rare congenital disorder characterized by numerous craniofacial, skeletal and, in some cases, urogenital abnormalities resulting from disordered steroidogenesis. Known genetic causes in sporadic cases of ABS include dominant mutations in the fibroblast growth factor 2 receptor gene (FGFR2). Recent research shows surprisingly that symptoms of Antley-Bixler syndr...
متن کاملOriginal articles Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
The Antley-Bixler syndrome has been thought to be caused by an autosomal recessive gene. However, patients with this phenotype have been reported with a new dominant mutation at the FGFR2 locus as well as in the oVspring of mothers taking the antifungal agent fluconazole during early pregnancy. In addition to the craniosynostosis and joint ankylosis which are the clinical hallmarks of the condi...
متن کاملEvidence for digenic inheritance in some cases of Antley-Bixler syndrome?
The Antley-Bixler syndrome has been thought to be caused by an autosomal recessive gene. However, patients with this phenotype have been reported with a new dominant mutation at the FGFR2 locus as well as in the offspring of mothers taking the antifungal agent fluconazole during early pregnancy. In addition to the craniosynostosis and joint ankylosis which are the clinical hallmarks of the cond...
متن کاملDiversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.
P450 oxidoreductase (POR) is the obligatory flavoprotein intermediate that transfers electrons from reduced nicotinamide adenine dinucleotide phosphate (NADPH) to all microsomal cytochrome P450 enzymes. Although mouse Por gene ablation causes embryonic lethality, POR missense mutations cause disordered steroidogenesis, ambiguous genitalia, and Antley-Bixler syndrome (ABS), which has also been a...
متن کاملAmbiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency.
Cytochrome P450 oxidoreductase deficiency is a recently established autosomal recessive disease characterised by ambiguous genitalia, impaired steroidogenesis, and skeletal malformations, referred to as Antley-Bixler syndrome. Clinical manifestations in affected patients are highly variable. We report on a girl with P450 oxidoreductase deficiency who presented with virilisation at birth. There ...
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