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Autosomal dominant

Guomin Li, Qian Shen, Li Sun, Haimei Liu, Yu An, Hong Xu
Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder characterized by branchial cleft fistulae or cysts, preauricular pits, ear malformations, hearing loss, and renal anomalies. Mutations in the human homologue of the Drosophila eyes absent gene ( EYA1 ) are the most common cause of BOR syndrome. PCR and direct sequencing were used to investigate all of the exons and exon-intron boundaries in the EYA1 gene in a patient with BOR syndrome from China. The patient was a child who displayed clinical features of BOR syndrome...
February 2018: Intractable & Rare Diseases Research
Yanqin Lu, Yanzhou Wang, Frank Rauch, Hu Li, Yao Zhang, Naixiang Zhai, Jian Zhang, Xiuzhi Ren, Jinxiang Han
Osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS) are rare genetic disorders that are typically inherited in an autosomal dominant manner. Few cases of OI/EDS overlap syndrome have been documented. Described here is a 30-year-old Chinese male with OI type III and EDS. Sequencing of genomic DNA revealed a heterozygous COL1A1 mutation (c.671G>A, p.Gly224Asp) that affected the N-anchor domain of the alpha 1 chain of collagen type I. Ultrastructural analysis of a skin biopsy specimen revealed thin collagen fibers with irregular alignment of collagen fibers...
February 2018: Intractable & Rare Diseases Research
Yanqin Lu, Yunzhang Dai, Yanzhou Wang, Naixiang Zhai, Jian Zhang, Junlong Liu, Xiaoli Yin, Tianyou Li, Xiuzhi Ren, Jinxiang Han
Osteogenesis imperfecta (OI) is a heritable connective tissue disorder with a predominately autosomal-dominant inheritance pattern. Recessive forms of OI are rare and involve many different causative genes. WNT1 mutations were found to cause either autosomal-recessive OI or dominantly inherited early-onset osteoporosis. Here we describe a 32-year-old boy with severe osteopenia and deformity of the extremities. The relative long thumb and ring finger are obvious. We identified a novel combination of complex heterozygous WNT1 mutation of c...
February 2018: Intractable & Rare Diseases Research
Natsumi Fujisaki, Shugo Suwazono, Masahito Suehara, Ryo Nakachi, Miwako Kido, Yoshihisa Fujiwara, Saki Oshiro, Takashi Tokashiki, Hiroshi Takashima, Masanori Nakagawa
Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is a motor and sensory neuronopathy with autosomal dominant inheritance, adult onset, slowly progressive course, and is associated with TRK-fused gene (TFG) mutation. At advanced stages, respiratory failure and dysphagia becomes life-threatoning, and patients typically die by their 70s. Although there is currently no evidence for effective treatment, a therapy may be found by elucidation of the function of TFG. Recently its pathomechanism has been proposed to be associated with abnormalities in protein transfer from the endoplasmic reticulum...
February 2018: Intractable & Rare Diseases Research
Patrícia Leitão, André Carvalho, Conceição Guerra, José Gonçalves, Isabel Ramos
Hereditary hemorrhagic telangiectasia or Osler-Weber-Rendu syndrome is a rare autosomal dominant vascular disorder characterized by epistaxis, mucocutaneous telangiectasias, and arteriovenous malformations affecting various organs and systems. The liver is a commonly involved organ (74% of patients with hereditary hemorrhagic telangiectasia), although symptomatic liver disease is quite infrequent. In symptomatic cases, clinical manifestations relate most commonly to the predominant type of vascular shunting present (arteriovenous, arterioportal, or portovenous)...
February 2018: Radiology Case Reports
Sugumari Elavarasu, Arthiie Thangavelu, Devisree Naveen, Saranya Selvaraj
Cherubism is a congenital childhood disease of autosomal dominant inheritance. It is a benign, familial giant cell lesion characterized by gradually progressive painless swelling of the jaws. Idiopathic gingival enlargement is a rare condition and may be associated with some uncommon syndromes. This case report describes an 11-year-old patient with unusual clinical form of gingival enlargement, cherubic facial appearance. Clinical examination revealed the presence of the hyperplastic gingiva, which completely covered all teeth...
November 2017: Journal of Indian Society of Periodontology
Paola Spitalieri, Rosa V Talarico, Silvia Caioli, Michela Murdocca, Annalucia Serafino, Marco Girasole, Simone Dinarelli, Giovanni Longo, Sabina Pucci, Annalisa Botta, Giuseppe Novelli, Cristina Zona, Ruggiero Mango, Federica Sangiuolo
Myotonic Dystrophy type 1 (DM1) is a multisystemic disease, autosomal dominant, caused by a CTG repeat expansion in DMPK gene. We assessed the appropriateness of patient-specific induced pluripotent stem cell-derived cardiomyocytes (CMs) as a model to recapitulate some aspects of the pathogenetic mechanism involving cardiac manifestations in DM1 patients. Once obtained in vitro, CMs have been characterized for their morphology and their functionality. CMs DM1 show intranuclear foci and transcript markers abnormally spliced respect to WT ones, as well as several irregularities in nuclear morphology, probably caused by an unbalanced lamin A/C ratio...
March 15, 2018: Journal of Molecular and Cellular Cardiology
Navneet Ammal Kaidery, Bobby Thomas
Parkinson's disease (PD) is one of the most common neurodegenerative movement disorder characterized by preferential loss of dopaminergic neurons of the substantia nigra pars compacta and the presence of Lewy bodies containing α-synuclein. Although the cause of PD remains elusive, remarkable advances have been made in understanding the possible causative mechanisms of PD pathogenesis. An explosion of discoveries during the past two decades has led to the identification of several autosomal dominant and recessive genes that cause familial forms of PD...
March 14, 2018: Neurochemistry International
Virginia Piombo, Katja Jochmann, Daniel Hoffmann, Manuela Wuelling, Andrea Vortkamp
Multiple osteochondromas (MO) syndrome is a dominant autosomal bone disorder characterized by the formation of cartilage-capped bony outgrowths that develop at the juxtaposition of the growth plate of endochondral bones. MO has been linked to mutations in either EXT1 or EXT2, two glycosyltransferases required for the synthesis of heparan sulfate (HS). The establishment of mouse mutants demonstrated that a clonal, homozygous loss of Ext1 in a wild type background leads to the development of osteochondromas. Here we investigate mechanisms that might contribute to the variation in the severity of the disease observed in human patients...
March 12, 2018: Bone
Yuzhi Zuo, Xiaoxin Li, Xingcheng Wu, Jing Zhou, Jianyi Wang, Jing Wang, Zhihong Wu, Hanzhong Li, Xuebin Zhang
Pheochromocytoma and paraganglioma (PPGLs) are rare autosomal dominant disorders derived from the neural crest chromaffin tissuesof the autonomic nervous system. The succinate dehydrogenase complex subunit D (SDHD) gene has been implicated as one of the pathogenic genes. Although more than 100 SDHD mutations have been reported, the phenotype-genotype association remains unclear. Here we reported a case of a patient who presented with multifocal PPGLs and with a rare SDHD mutation. It is the first report linking this variant to multifocal PPGLs...
March 12, 2018: Urology
Alexandra Colvin, Amanda F Saltzman, Jonathan Walker, Jennifer Bruny, Nicholas G Cost
Pheochromocytoma is a rare chromaffin cell tumor that is may be associated with a genetic predisposition, such as Von Hippel-Lindau (VHL) disease. VHL is an autosomal dominant disorder that is characterized by a predisposition to multiple tumors including retinal and central nervous system hemangioblastomas, renal cell carcinoma and pheochromocytomas. The classic presentation of pheochromocytoma is episodic hypertension, headaches, palpitations, and diaphoresis. In the pediatric population, 40% of pheochromocytomas have a hereditary basis...
March 12, 2018: Urology
Celeste Sassi, Michael A Nalls, Perry G Ridge, Jesse R Gibbs, Michelle K Lupton, Claire Troakes, Katie Lunnon, Safa Al-Sarraj, Kristelle S Brown, Christopher Medway, Jenny Lord, James Turton, Jose Bras, Sonja Blumenau, Mareike Thielke, Christa Josties, Dorette Freyer, Annette Dietrich, Monia Hammer, Michael Baier, Ulrich Dirnagl, Kevin Morgan, John F Powell, John S Kauwe, Carlos Cruchaga, Alison M Goate, Andrew B Singleton, Rita Guerreiro, Angela Hodges, John Hardy
Mendelian adult-onset leukodystrophies are a spectrum of rare inherited progressive neurodegenerative disorders affecting the white matter of the central nervous system. Among these, cerebral autosomal dominant and recessive arteriopathy with subcortical infarcts and leukoencephalopathy, cerebroretinal vasculopathy, metachromatic leukodystrophy, hereditary diffuse leukoencephalopathy with spheroids, and vanishing white matter disease present with rapidly progressive dementia as dominant feature and are caused by mutations in NOTCH3, HTRA1, TREX1, ARSA, CSF1R, EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5, respectively...
February 2, 2018: Neurobiology of Aging
Adel Shalata, Mohammad Mahroom, Dianna M Milewicz, Gong Limin, Fadi Kassum, Khader Badarna, Nader Tarabeih, Nimmer Assy, Rona Fell, Hector Cohen, Munir Nashashibi, Alejandro Livoff, Muhammad Azab, George Habib, Dan Geiger, Omer Weissbrod, William Nseir
BACKGROUND: Thoracic and abdominal aortic aneurysms and dissection often develop in hypertensive elderly patients. At higher risk are smokers and those who have a family history of aortic aneurysms. In most affected families, the aortic aneurysms and dissection is inherited in an autosomal dominant manner with decreased penetrance and variable expressivity. Mutations at two chromosomal loci, TAA1 at 11q23 and the TAA2 at 5q13-14, and eight genes, MYLK, MYH11, TGFBR2, TGFBR1, ACTA2, SMAD3, TGFB2, and MAT2A, have been identified as being responsible for the disease in 23% of affected families...
March 15, 2018: Orphanet Journal of Rare Diseases
Christoph Niemietz, Christoph Röcken, Matthias Schilling, Jörg Stypman, Constantin E Uhlig, Hartmut H-J Schmidt
Transthyretin-related Familial Amyloid Polyneuropathy (ATTR Amyloidosis, former FAP, here called TTR-FAP) is a rare, progressive autosomal dominant inherited amyloid disease ending fatal within 5 - 15 years after final diagnosis. TTR-FAP is caused by mutations of transthyretin (TTR), which forms amyloid fibrils affecting peripheral and autonomic nerves, the heart and other organs. Due to the phenotypic heterogeneity and partly not specific enough clinical symptoms, diagnosis of TTR-FAP can be complicated...
March 2018: Deutsche Medizinische Wochenschrift
Ceren D Durmaz, Gareth Evans, Miriam J Smith, Pelin Ertop, Bengü N Akay, Timur Tuncalı
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare multisystemic autosomal dominant disorder typically presenting with cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. NBCCS is caused by heterozygous mutations in the PTCH1 gene in chromosome 9q22, in the PTCH2 gene in 1p34, or the SUFU gene in 10q24.32. Here, we report on an 18-month-old boy presenting with medulloblastoma, frontal bossing, and multiple skeletal anomalies and his father who has basal cell carcinomas, palmar pits, macrocephaly, bifid ribs, calcification of falx cerebri, and a history of surgery for odontogenic keratocyst...
March 16, 2018: Cytogenetic and Genome Research
Dian He, Yuan Li, Yunli Yu, Gang Cai, Fu Ouyang, Yuchan Lin, Hongjuan Lu, Lan Chu
Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder that primarily affects the skin and the nervous system. This condition is called segmental NF1 (also called neurofibromatosis type V) when clinical features are limited to one area of the body. Segmental NF1 is generally thought to result from somatic mosaicism due to a postzygotic mutation in the NF1 gene, thus a test for NF1 gene abnormalities in peripheral blood is usually negative. Here we report a 31-year-old male presenting with epileptic seizures, who had a history of neurofibromas confirmed by biopsy, but lacked a family history of neurofibromatosis...
March 1, 2018: Clinical Neurology and Neurosurgery
Rachel C Lombardo, Aleksey Porollo, James F Cnota, Robert J Hopkin
PurposeCongenital central hypoventilation syndrome (CCHS, OMIM 209880) is a rare autosomal dominant disorder caused by mutation in PHOX2B that manifests as a consequence of abnormal neural crest cell migration during embryogenesis. Unlike other neurocristopathies, however, its impact on the cardiovascular system has not been previously assessed. This study was an effort to characterize the association between congenital heart disease (CHD) and mutations in PHOX2B in patients with CCHS.MethodsA retrospective review of patients with CCHS in conjunction with functional analysis of PHOX2B mutations associated with CHD was performed...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Daisuke Higeta, Rie Yamaguchi, Takeshi Takagi, Gen Nishimura, Kiyoko Sameshima, Kayoko Saito, Takashi Minegishi
Campomelic dysplasia is an autosomal dominant skeletal dysplasia caused by heterozygous SOX9 mutations. Most patients are sporadic due to a de novo mutation. Familial campomelic dysplasia is very rare. We report on a familial campomelic dysplasia caused by maternal germinal mosaicism. Two siblings showed the classic campomelic dysplasia phenotype with a novel SOX9 mutation (NM_000346.3: c.441delC, p.(Asn147Lysfs*36)). Radiological examination of the mother showed mild skeletal changes. Then, her somatic mosaicism of the mutation was ascertained...
March 14, 2018: Congenital Anomalies
Joyce J Lu, Jason D Slaikeu, Peter Y Wong
Marfan syndrome is a well-described autosomal dominant connective tissue disorder with a constellation of anatomic characteristics including aortic degeneration as a result of the spontaneous mutation of the fibrillin gene, FBN1 . Whereas life-threatening dissection and ascending aneurysmal rupture have been thoroughly documented in the literature, aneurysms of the abdominal aorta and those present in the pediatric population have only rarely been reported. In this case report, we describe presentation, successful open surgical repair, and recovery of a pediatric Marfan syndrome patient with a ruptured abdominal aortic aneurysm...
March 2018: Journal of Vascular Surgery Cases and Innovative Techniques
Weiwei Ruan, Li Cao, Zhonghua Chen, Mingxiang Kong, Qing Bi
Hereditary multiple osteochondroma (HMO) is an autosomal dominant genetic disorder characterized by multiple outgrowing bony tumors capped by cartilage, generally affecting the metaphyses. The disease is known as hereditary multiple exostoses, familial exostosis, multiple cartilaginous exostoses or hereditary malformation of cartilage. The prevalence of HMO in Europe and the Unites States is ~1:100,000, although it has not been reported in China. The disease is often accompanied by pain, asymmetry and skeletal malformations, including forearm and leg bending deformities, limb length discrepancies, and knee internal and external rotation abnormalities...
April 2018: Oncology Letters
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