- Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.
- Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ.AbstractFocal facial dermal dysplasia (FFDD) Type IV is a rare syndrome characterized by facial lesions resembling aplasia cutis in a preauricular distribution along the line of fusion of the maxillary and mandibular prominences. To identify the causative gene(s), exome sequencing was performed in a family with two affected siblings. Assuming autosomal recessive inheritance, two novel sequence variants were identified in both siblings in CYP26C1-a duplication of seven base pairs, which was maternally inherited, c.844_851dupCCATGCA, predicting p.Glu284fsX128 and a missense mutation, c.1433G>A, predicting p.Arg478His, that was paternally inherited. The duplication predicted a frameshift mutation that led to a premature stop codon and premature chain termination, whereas the missense mutation was not functional based on its in vitro expression in mammalian cells. The FFDD skin lesions arise along the sites of fusion of the maxillary and mandibular prominences early in facial development, and Cyp26c1 was expressed exactly along the fusion line for these facial prominences in the first branchial arch in mice. Sequencing of four additional, unrelated Type IV FFDD patients and eight Type II or III TWIST2-negative FFDD patients revealed that three of the Type IV patients were homozygous for the duplication, whereas none of the Type II or III patients had CYP26C1 mutations. The seven base pairs duplication was present in 0.3% of healthy controls and 0.3% of patients with other birth defects. These findings suggest that the phenotypic manifestations of FFDD Type IV can be non-penetrant or underascertained. Thus, FFDD Type IV results from the loss of function mutations in CYP26C1.
- Human molecular genetics.Hum Mol Genet.2013 Feb 15;22(4):696-703. doi: 10.1093/hmg/dds477. Epub 2012 Nov 16.
- Focal facial dermal dysplasia (FFDD) Type IV is a rare syndrome characterized by facial lesions resembling aplasia cutis in a preauricular distribution along the line of fusion of the maxillary and mandibular prominences. To identify the causative gene(s), exome sequencing was performed in a family
- PMID 23161670
- [Etiology and pathophysiology of benign prostate hyperplasia.]
- Roosen A, Gratzke C, Herrlemann A, Magistro G, Strittmatter F, Weinhold P, Tritschler S, Stief CG.SourceUrologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München, Klinikum Großhadern, Marchioninistraße 15, 81377, München, Deutschland, Alexander.Roosen@med.uni-muenchen.de.
- Der Urologe. Ausg. A.Urologe A.2013 Feb 2. [Epub ahead of print]
- The pathogenesis of benign prostate hyperplasia (BPH) is still unclear. It is a common disease affecting exclusively humans in its full clinical appearance. There is a broad variety of possible underlying mechanisms which most likely interact in the pathogenesis of the disease: inflammatory processe
- PMID 23370401
- a pattern of inheritance in which the transmission of traits depends on the presence or absence of certain alleles on the autosomes. The pattern may be dominant or recessive, and males and females are usually affected with equal frequency.
- autosomal inheritance
- hereditary pattern