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Autosomal Dominant Condition (autosomal + dominant_condition)
Selected AbstractsFamilial Eccrine Spiradenoma: A Case Report and Review of the LiteratureDERMATOLOGIC SURGERY, Issue 4 2003Maryanna C. Ter Poorten MD BACKGROUND Familial eccrine spiradenoma is a rare autosomal dominant condition that is characterized by slow-growing, benign adnexal tumors. OBJECTIVE We investigated a case of familial eccrine spiradenoma displaying an autosomal dominant inheritance pattern. To our knowledge, only two previously reported cases of familial eccrine spiradenoma exist in the literature. METHODS A case report and review of the literature are given. RESULTS We report a case of familial eccrine spiradenoma in a mother and daughter and present successful treatment using surgical extirpation and CO2 laser ablation. CONCLUSION Familial eccrine spiradenoma is a benign autosomal dominantly inherited condition that is characterized by tender, slow-growing, adnexal tumors of the head and neck. Surgical tumor extirpation and CO2 laser ablation offer both an effective symptomatic and cosmetically elegant treatment option. [source] Familial fibronectin glomerulopathy: analysis of chromosome 1q32 and uteroglobin gene loci in a large New Zealand familyNEPHROLOGY, Issue 5 2001Robert Walker SUMMARY: Recently, a newly recognized familial glomerulopathy with predominant fibronectin deposits has been reported. This is the first report of a family with this condition in Australasia and spans two generations over a 30-year period, with the histologically confirmed glomerulopathy present in the father and five out of eight siblings. The clinical presentations have ranged from asymptomatic proteinuria, pregnancy-associated proteinuria and the nephrotic syndrome to hypertension and proteinuria with progressive renal failure. The time-course from presentation to renal failure was over a 20 years. Histology demonstrated global and diffuse thickening of capillary loops, but no cellular proliferation. Immunofluorescence demonstrated granular positivity for IgM in the capillary loops only. Electron microscopy demonstrated massive electron-dense subendothelial granular deposits with occasional small fibrils and unremarkable epithelial cell foot processes. Immunohistochemical staining was strongly positive for fibronectin and negative for type I or type IV collagen and transforming growth factor , in all biopsies. Genetic studies of familial fibronectin glomerulopathy have recently highlighted two genetic loci. Firstly, a large five-generation pedigree has been described with linkage of fibronectin glomerulopathy to chromosome 1q32. Secondly, fibronectin glomerulopathy has been reported in uteroglobin gene knockout mice. In our studies, DNA sequence analysis of the uteroglobin gene showed that it was normal in all family members, and a DNA polymorphism in the uteroglobin gene did not co-segregate with the disease. In addition, DNA microsatellite markers at the 1q32 locus did not co-segregate with the disease in our family. We presume that the underlying abnormality involves as yet undefined glomerular extracellular matrix regulation and is inherited as an autosomal dominant condition. These data favour genetic heterogeneity for the aetiology of fibronectin glomerulopathy. [source] Hereditary iron overload: Update on pathophysiology, diagnosis, and treatmentAMERICAN JOURNAL OF HEMATOLOGY, Issue 3 2006Massimo Franchini Abstract Hereditary hemochromatosis, a very common genetic defect in the Caucasian population, is characterized by progressive tissue iron overload which leads to irreversible organ damage if it is not treated timely. The elucidation of the molecular pathways of iron transport through cells and its control has led to the understanding of various genetic iron-loading conditions. Four types of inherited iron overload have been recognized: type 1, the most common form with an autosomal recessive inheritance, is associated with mutations in the HFE gene on chromosome 6; type 2 (juvenile hemochromatosis) is an autosomal recessive disorder with causative mutations identified in the HJV gene (subtype A) on chromosome 1 and the HAMP gene (subtype B) on chromosome 19; type 3 has also an autosomal recessive inheritance with mutations in the TfR2 gene on chromosome 3; type 4 is an autosomal dominant condition with heterozygous mutations in the ferroportin 1 gene on chromosome 2. In this review, the genetics, pathophysiology, diagnosis, clinical features, and management of these different types of hereditary hemochromatosis are briefly discussed. Am. J. Hematol. 81:202,209, 2006. © 2006 Wiley-Liss, Inc. [source] Congenital lymphedema presenting with increased nuchal translucency at 13 weeks of gestationPRENATAL DIAGNOSIS, Issue 2 2002A. P. Souka Abstract Congenital lymphedema is an autosomal dominant condition characterized by chronic tissue swelling caused by deficient lymphatic drainage due to hypoplastic/aplastic lymphatic vessels and usually affecting the lower limbs. The locus of the gene has been identified in the long arm of chromosome 15. We report one case of congenital lymphedema presenting with increased nuchal translucency at 13 weeks of gestation. Copyright © 2002 John Wiley & Sons, Ltd. [source] A twisted hand: bHLH protein phosphorylation and dimerization regulate limb developmentBIOESSAYS, Issue 11 2005Juanliang Cai Saethre-Chotzen syndrome (SCS), a human autosomal dominant condition with limb defects and craniosynostosis, is caused by haploinsufficiency of TWIST1, a basic helix,loop,helix (bHLH) transcription factor. Until recently, the molecular pathogenesis of the limb defects in SCS has not been well understood. Now, Firulli et al.1 show in mouse and chick that ectopic expression of a related bHLH protein, Hand2, results in phenocopies of the limb defects caused by Twist1 loss-of-function mutations. These two proteins interact in a dosage-dependent antagonistic manner, and both can be regulated through phosphorylation at conserved helix I amino acid residues. These findings provide an important link between the misregulation of Twist1 dimerization and the limb phenotypes observed in SCS. BioEssays 27:1102,1106, 2005. © 2005 Wiley Periodicals, Inc. [source] Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia,cataract syndrome reveals novel and de novo mutationsBRITISH JOURNAL OF HAEMATOLOGY, Issue 4 2002Janet L. McLeod Summary., Hereditary hyperferritinaemia,cataract syndrome (HHCS) (OMIM #600886) is a rare autosomal dominant condition identified by high serum ferritin levels with normal iron saturation and distinctive bilateral cataract. It may be misdiagnosed as haemochromatosis and such patients become anaemic as a result of inappropriate venesection. The elevated serum ferritin is due to a mutation in the iron-responsive element (IRE) of the l -ferritin gene, resulting in excessive l -ferritin production. We report the identification of three Australian pedigrees; one with a previously described mutation at position 40, a pedigree with a novel mutation at position 39 and an individual with a de novo mutation at position 32 of the l -ferritin IRE. [source] C1 inhibitor deficiency: consensus documentCLINICAL & EXPERIMENTAL IMMUNOLOGY, Issue 3 2005M. M. Gompels Summary We present a consensus document on the diagnosis and management of C1 inhibitor deficiency, a syndrome characterized clinically by recurrent episodes of angio-oedema. In hereditary angio-oedema, a rare autosomal dominant condition, C1 inhibitor function is reduced due to impaired transcription or production of non-functional protein. The diagnosis is confirmed by the presence of a low serum C4 and absent or greatly reduced C1 inhibitor level or function. The condition can cause fatal laryngeal oedema and features indistinguishable from gastrointestinal tract obstruction. Attacks can be precipitated by trauma, infection and other stimulants. Treatment is graded according to response and the clinical site of swelling. Acute treatment for severe attack is by infusion of C1 inhibitor concentrate and for minor attack attenuated androgens and/or tranexamic acid. Prophylactic treatment is by attenuated androgens and/or tranexamic acid. There are a number of new products in trial, including genetically engineered C1 esterase inhibitor, kallikrein inhibitor and bradykinin B2 receptor antagonist. Individual sections provide special advice with respect to diagnosis, management (prophylaxis and emergency care), special situations (childhood, pregnancy, contraception, travel and dental care) and service specification. [source] Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)?CLINICAL GENETICS, Issue 5 2005S Alwan Characteristic skeletal lesions are a cardinal feature of the autosomal dominant condition, neurofibromatosis 1 (NF1). The most frequently involved skeletal sites are the sphenoid wing, vertebrae, and tibia. Osseous lesions may range in severity in NF1 but are often progressive. They may lead to serious clinical consequences and be resistant to treatment. The skeletal lesions of NF1 are usually considered to be ,dysplasias', i.e. primary defects of bone, although there is no direct evidence supporting this interpretation. Moreover, it is difficult to understand why a generalized dysplasia of bone would produce focal lesions that show such a striking predisposition to only a few bones. We review the clinical and pathological features of NF1 skeletal lesions and propose that they result from an abnormal response of NF1 halpoinsufficient bone to abnormal mechanical forces rather than from a primary osseous dysplasia. [source] | |||||||||||||