Genomes and Genes
Experts and Doctors on pedigree in Newcastle upon Tyne, England, United Kingdom
Locale: Newcastle upon Tyne, England, United Kingdom
- Owens M, Kivuva E, Quinn A, Brennan P, Caswell R, Lango Allen H, et al. SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B. Clin Endocrinol (Oxf). 2016;84:715-9 pubmed publisher..3254dup) in one of the 3 additional index patients. Our results demonstrate the existence of pure mucosal neuroma syndrome as a clinical entity distinct from MEN2B that can now be diagnosed by genetic testing. ..
- Thomas S, Cantagrel V, Mariani L, Serre V, Lee J, Elkhartoufi N, et al. Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. Eur J Hum Genet. 2015;23:621-7 pubmed publisher..Thus our data identify a novel ARL13B variant that causes JS and retinopathy and suggest an extension of the phenotypic spectrum of ARL13B mutations to obesity. ..
- Hudson G, Amati Bonneau P, Blakely E, Stewart J, He L, Schaefer A, et al. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain. 2008;131:329-37 pubmed..This demonstrates the importance of OPA1 in mtDNA maintenance, and implicates OPA1 in diseases associated with secondary defects of mtDNA. ..
- Garcia C, Blair H, Seager M, Coulthard A, Tennant S, Buddles M, et al. Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy. J Med Genet. 2004;41:183-6 pubmed..Synapsin I is a synaptic vesicle associated protein involved in the regulation of synaptogenesis and neurotransmitter release. The SYN1 nonsense mutation that was identified is the likely cause of the phenotype in this family. ..
- Deschauer M, Kiefer R, Blakely E, He L, Zierz S, Turnbull D, et al. A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia. Neuromuscul Disord. 2003;13:568-72 pubmed
- Ruiz Perez V, Tompson S, Blair H, Espinoza Valdez C, Lapunzina P, Silva E, et al. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Am J Hum Genet. 2003;72:728-32 pubmed..These two genes lie in a head-to-head configuration that is conserved from fish to man. Affected individuals with mutations in EVC and EVC2 have the typical spectrum of features and are phenotypically indistinguishable...
- McFarland R, Clark K, Morris A, Taylor R, MacPhail S, Lightowlers R, et al. Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. Nat Genet. 2002;30:145-6 pubmed..The mother is clinically normal, but a severe biochemical and molecular genetic defect was present in both a fatally affected child and the mother. This family highlights the role of homoplasmic mt-tRNA mutations in genetic disease...
- Curtis A, Fey C, Morris C, Bindoff L, Ince P, Chinnery P, et al. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet. 2001;28:350-4 pubmed..An abnormality in ferritin strongly indicates a primary function for iron in the pathogenesis of this new disease, for which we propose the name 'neuroferritinopathy'. ..
- Goodship J, Gill H, Carter J, Jackson A, Splitt M, Wright M. Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24. Am J Hum Genet. 2000;67:498-503 pubmed..72. All five affected individuals were homozygous for the same allele, for two adjacent polymorphic markers within the region segregating with the disease, narrowing the region to 12 cM. ..
- Ng W, von Delwig A, Carmichael A, Arkwright P, Abinun M, Cant A, et al. Impaired T(H)17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Allergy Clin Immunol. 2010;126:1006-15, 1015.e1-4 pubmed publisher..Understanding immune defects in patients with CMC will define cellular and molecular mechanisms crucial for protection against Candida species in human subjects...
- Horvath R, Kemp J, Tuppen H, Hudson G, Oldfors A, Marie S, et al. Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. Brain. 2009;132:3165-74 pubmed publisher..This study provides the rationale for a simple genetic test to identify infants with mitochondrial myopathy and good prognosis. ..
- Keen T, Inglehearn C, Lester D, Bashir R, Jay M, Bird A, et al. Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site. Genomics. 1991;11:199-205 pubmed..This result demonstrates a correlation between the location of the mutation and the severity of phenotype in rhodopsin RP. ..