Virginia E Kimonis
Affiliation: Harvard University
- Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing proteinGiles D J Watts
Division of Genetics, Children s Hospital Boston, 300 Longwood Avenue, Harvard Medical School, Boston, Massachusetts 02115, USA
Nat Genet 36:377-81. 2004..Identification of VCP as causing IBMPFD has important implications for other inclusion-body diseases, including myopathies, dementias and Paget disease of bone (PDB), as it may define a new common pathological ubiquitin-based pathway...
- Autosomal dominant inclusion body myopathy, Paget disease of bone, and frontotemporal dementiaVirginia E Kimonis
Division of Genetics, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts 02115, USA
Alzheimer Dis Assoc Disord 19:S44-7. 2005..Identification of VCP as the gene causing IBMPFD has important implications for understanding the pathogenesis of neurodegenerative disorders...
- Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathySarju G Mehta
Division of Genetics and Metabolism, Children s Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
Am J Med Genet A 140:322-30. 2006..Elucidation of the novel molecular basis of this disorder may provide valuable links between bone, collagen and muscle, and targeted therapeutic options...
- APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD)Sarju G Mehta
Children s Hospital Clinical Genetics and Metabolism, Boston, Massachusetts, and Department of Neurology and Sanders Brown Center on Aging, University of Kentucky, Lexington, Kentucky, USA
Genet Med 9:9-13. 2007..Modifier genes could account for decreased frontotemporal dementia penetrance. In this study apolipoprotein-E (APOE) was evaluated for this role in IBMPFD families based on its known modifier effect in Alzheimer's disease...
- Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementiaVirginia E Kimonis
Division of Genetics and Metabolism, Children s Hospital, Harvard Medical School, Boston, Massachusetts, USA
Am J Med Genet A 146:745-57. 2008..The presence of PDB in 28 (57%) individuals suggests that measuring serum alkaline phosphatase (ALP) activity may be a useful screen for IBMPFD in patients with myopathy...
- Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndromeGiles D J Watts
Division of Genetics and Metabolism, Children s Hospital, Harvard Medical School, 300 Longwood Avenue, Fegan 10, Boston, MA, 02115, USA
Hum Genet 118:508-14. 2005..This region also localizes diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH). Identification of the disease gene will be necessary to understand the pathogenesis of this complex disorder...
- An additional patient with mycophenolate mofetil embryopathy: cardiac and facial analysesAngela E Lin
Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts, USA
Am J Med Genet A 155:748-56. 2011..This awareness may influence clinical management of apparently normal MMF-exposed individuals...
- Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?Fowzan S Alkuraya
Division of Genetics and Metabolism, Children s Hospital Boston, Harvard Medical School, MA 02115, USA
Birth Defects Res A Clin Mol Teratol 73:569-71. 2005..Trisomy 13 and Smith-Lemli-Opitz syndrome (SLOS) are both well-recognized multiple congenital anomaly/mental retardation syndromes...
- Fryns syndrome with Hirschsprung disease: support for possible neural crest involvementFowzan S Alkuraya
Division of Genetics and Metabolism, Children s Hospital, Harvard Medical School, Boston, MA 02130, USA
Am J Med Genet A 132:226-30. 2005..We suspect that the clinical observation about Hirschsprung disease and Fryns syndrome may provide insight into its molecular mechanisms and candidate genes...
- Nuclear localization of valosin-containing protein in normal muscle and muscle affected by inclusion-body myositisSteven A Greenberg
Department of Neurology, Division of Neuromuscular Disease, Brigham and Women s Hospital, and Harvard Medical School, Boston, MA 02115, USA
Muscle Nerve 36:447-54. 2007..These findings suggest that impairment in the nuclear function of VCP might contribute to the muscle pathology occurring in IBMPFD...
- Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genesGiles D J Watts
Division of Genetics and Metabolism, Children s Hospital, Harvard Medical School, 300 Longwood Avenue, Fegan 5, Boston, MA 02115, USA
Neuromuscul Disord 13:559-67. 2003..Expression studies indicate that GNE has a tissue-specific splice pattern, with four splice variants. Mutation analysis in three other candidate genes (beta-tropomyosin, NDUFB6 and SMU1) did not identify any mutations...
- Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literatureHagit Baris
Division of Genetics, Children s Hospital Boston and Harvard Medical School, Boston, Massachusetts, USA
Am J Med Genet A 134:220-2. 2005..This case may represent a mild phenotype of the scalp-ear-nipple syndrome or a newly recognized entity...
- NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafnessKerry K Brown
Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
Am J Med Genet A 149:931-8. 2009..Additionally, this study further highlights the need for high resolution analysis of clinical samples with chromosomal rearrangements as associated deletions may be primarily responsible for the clinical features of these patients...
- Immunoglobulin deficiency in Stickler syndromeZamaneh Mikhak
Healthy Link Asthma Education Program, Children s Hospital, Boston, Massachusetts, USA
Am J Med Genet A 140:2824-7. 2006
- Diagnostic utility of array-based comparative genomic hybridization in a clinical settingHagit N Baris
Division of Genetics, Children s Hospital Boston, and Harvard Medical School, Boston, Massachusetts 02115, USA
Am J Med Genet A 143:2523-33. 2007..However, it is best used as an adjunct to chromosomal analysis when a clear genetic diagnosis is unavailable...
- Peters anomaly in association with multiple midline anomalies and a familial chromosome 4 inversionEdward Neilan
Division of Genetics, Children s Hospital, Harvard Medical School, Boston, MA 02115, USA
Ophthalmic Genet 27:63-5. 2006..His normal stature and cognitive development distinguish this case from the Peters Plus syndrome. The presence of a cranial meningocele represents a new association with Peters anomaly...
- What syndrome is this? Laryngo-onycho-cutaneous syndromeCaroline Choi Kim
Department of Dermatology, Harvard Medical School, Children s Hospital Boston, Boston, Massachusetts 02115, USA
Pediatr Dermatol 24:306-8. 2007
- Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutationsMark S Forman
Department of Pathology, University of Pennsylvania School of Medicine, Philadelphia, 19104, USA
J Neuropathol Exp Neurol 65:571-81. 2006..Our findings are consistent with the hypothesis that the pathology associated with VCP gene mutations is the result of impairment of ubiquitin-based degradation pathways...
- TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutationsManuela Neumann
Center for Neuropathology and Prion Research, Ludwig Maximilians University, Munich, Germany
J Neuropathol Exp Neurol 66:152-7. 2007..TDP-43 is a common pathologic substrate linking a variety of distinct patterns of FTLD-U pathology caused by different genetic alterations...
- Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assayAmy E Roberts
Am J Med Genet A 130:204-7. 2004
- Kousseff syndrome caused by deletion of chromosome 22q11-13Shawnia Forrester
Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, Illinois 62794 9658, USA
Am J Med Genet 112:338-42. 2002..We suggest that individuals with neural tube defects associated with other anomalies such as congenital heart defects or cleft palate be evaluated for 22q deletions...
- Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?Ute Moog
Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands
Am J Med Genet A 143:2973-80. 2007..We hypothesize that ECCL may be caused by mosaicism for a mutated gene involved in benign mesenchymal tumors and in vasculogenesis...
- Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32Melissa B Ramocki
Department of Human Genetics, The University of Chicago, 920 E 58th Street, Chicago, IL 60637, USA
Eur J Hum Genet 11:527-34. 2003..Unexpectedly, the rearrangement produced in-frame reciprocal fusion transcripts, making genotype-phenotype correlation difficult...
- A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: Further support for "ring chromosome 2 syndrome"Fowzan S Alkuraya
Am J Med Genet A 132:447-9. 2005
- Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23Alexey Shatunov
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 9404, USA
Brain 129:2318-31. 2006..Our findings provide evidence for linkage to a novel susceptibility locus on chromosome 6p23. Analysis of additional ET-affected families is needed to confirm linkage and identify the underlying gene...
- Recurrent miscarriage in a carrier of a balanced cytogenetically undetectable subtelomeric rearrangement: how many are we missing?Fowzan S Alkuraya
Prenat Diagn 26:291-3. 2006
- Temtamy-like syndrome associated with translocation of 2p24 and 9q32Anita Talisetti
Division of Genetics and Metabolism, Southern Illinois University School of Medicine, Springfield, IL, USA
Clin Dysmorphol 12:175-7. 2003..This is the first documented case of Temtamy syndrome with a specific chromosomal anomaly, and will assist with the elucidation of the syndrome's underlying genetic defect...
- Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of boneGavin J A Lucas
Department of Medicine and Therapeutics, University of Aberdeen, UK
Bone 38:280-5. 2006..Genetic variation in VCP does not appear to be a common cause of familial or sporadic PDB in the absence of myopathy and dementia...
- Heterogeneity in familial dominant Paget disease of bone and muscular dystrophyBrook Waggoner
Division of Genetics and Metabolism, Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, Illinois, USA
Am J Med Genet 108:187-91. 2002..1-q12, thus providing evidence for genetic heterogeneity among families with the unique combination of muscular dystrophy and Paget disease of bone...