Genomes and Genes
Affiliation: University College London
- Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian populationInga Ebermann
Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany
Genome Biol 8:R47. 2007..We hypothesized that founder mutations in USH1 genes exist in this population...
- Aminoglycoside-induced deafness during treatment of acute leukaemiaM Bitner-Glindzicz
Clinical and Molecular Genetics Unit, UCL Institute of Child Health and Great Ormond Street Hospital NHS Trust, 30 Guilford St, London WC1N 1EH, UK
Arch Dis Child 95:153-5. 2010..Consideration should be given to elective testing of other groups of patients likely to receive aminoglycosides...
- A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C geneM Bitner-Glindzicz
Department of Clinical and Molecular Genetics, Institute of Child Health, and Great Ormond Street Hospital for Children NHS Trust, London, UK
Nat Genet 26:56-60. 2000..The pattern of expression of the USH1C protein is consistent with the clinical features exhibited by individuals with the contiguous gene deletion and with isolated Usher type 1C...
- Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutationEva Lenassi
UCL Institute of Ophthalmology, London, United Kingdom Moorfields Eye Hospital, London, United Kingdom Eye Hospital, University Medical Centre, Ljubljana, Slovenia
Ophthalmology 121:580-7. 2014..Mutations in the MYO7A gene are the most common cause of Usher syndrome type 1, characterized by profound congenital deafness, vestibular arreflexia, and progressive retinal degeneration...
- Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencingHeather B Steele-Stallard
UCL Institute of Child Health, London, UK
Orphanet J Rare Dis 8:122. 2013..The purpose of this study was to improve the molecular diagnosis in these families by screening USH2A for duplications, heterozygous deletions and a common pathogenic deep intronic variant USH2A: c.7595-2144A>G...
- De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failureDagan Jenkins
Nephro Urology Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1E 1EH, UK
J Am Soc Nephrol 16:2141-9. 2005..Therefore, although the mechanisms of action of the UPIIIa mutations have yet to be determined, these findings have important implications regarding genetic counseling of affected individuals who reach reproductive age...
- Hereditary deafness and phenotyping in humansMaria Bitner-Glindzicz
Unit of Clinical and Molecular Genetics, Institute of Child Health, London, UK
Br Med Bull 63:73-94. 2002..Continued clinical evaluation of types and course of hearing loss and correlation with genotype is important for the intelligent application of molecular testing in the next few years...
- FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathyElisa Fassone
Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London WC1N 1EH, UK
Hum Mol Genet 19:4837-47. 2010..The discovery of the c.1054C>T; p.R352W mutation in the FOXRED1 gene is a further contribution towards resolving the complex puzzle of the genetic basis of human mitochondrial disease...
- A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variantsEva Lenassi
UCL Institute of Ophthalmology and Moorfields Eye Hospital, University College of London, London, UK
Eur J Hum Genet 23:1318-27. 2015..Careful genotype-phenotype studies such as this will become increasingly important, especially now that high-throughput sequencing is widely used in the clinical setting. ..
- Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gammaAlistair T Pagnamenta
Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, London, WC1N 1EH, UK
Hum Reprod 21:2467-73. 2006....
- CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisitedDaniel Kelberman
Ulverscroft Vision Research Group, University College London Institute of Child Health, London, and Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom
Ophthalmology 118:1865-73. 2011....
- A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial diseaseAndrew J Duncan
Mitochondrial Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London WC1N 1EH, UK
Am J Hum Genet 84:558-66. 2009..Site-directed mutagenesis targeting the equivalent residue in the yeast Saccharomyces cerevisiae abolished respiratory growth...
- Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing lossZubin Saihan
Institute of Ophthalmology, UCL, London, UK
Retina 31:1708-16. 2011..To determine the molecular cause of sector retinitis pigmentosa and hearing loss in two affected siblings...
- Infantile hyperinsulinism associated with enteropathy, deafness and renal tubulopathy: clinical manifestations of a syndrome caused by a contiguous gene deletion located on chromosome 11pKhalid Hussain
London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust and Institute of Child Health, London, UK
J Pediatr Endocrinol Metab 17:1613-21. 2004..This contiguous gene deletion provides important insights into the normal development of several body organ systems...
- Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher StudyPolona Le Quesne Stabej
Clinical and Molecular Genetics, Institute of Child Health, UCL, London, UK
J Med Genet 49:27-36. 2012..This study is a comprehensive clinical and genetic analysis of 172 Usher patients and evaluates the contribution of digenic inheritance...
- Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorderKarin Tuschl
University College London Institute of Child Health with Great Ormond Street Hospital for Children NHS Trust, London, UK
J Inherit Metab Dis 31:151-63. 2008..Chelation therapy with disodium calcium edetate combined with iron supplementation is the treatment of choice, lowering blood manganese levels significantly and improving clinical symptoms...
- Update on Usher syndromeZubin Saihan
UCL Institute of Ophthalmology and Moorfields Eye Hospital, London, UK
Curr Opin Neurol 22:19-27. 2009..The present review addresses the mechanisms, genetics and pathogenesis of Usher syndrome...
- Late postnatal onset of hearing loss due to GJB2 mutationsWaheeda Pagarkar
Department of Audiology, Great Ormond Street Hospital for Children, Great Ormond Street, London, WC1N 3JH, UK
Int J Pediatr Otorhinolaryngol 70:1119-24. 2006....
- Hearing in 44-45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort studyShamima Rahman
Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK
BMJ Open 2:e000411. 2012..Since global use of aminoglycosides is likely to increase, development of a rapid test is a priority...
- Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelinationNicole I Wolf
Clinical and Molecular Genetics Unit, Institute of Child Health, London, UK
Neurogenetics 8:39-44. 2007..In children with nystagmus, ataxia and dysmyelination, mutation analysis of GJA12 should be considered early, especially if inheritance is autosomal recessive...
- Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing lossMary O'Sullivan
Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK
Hum Mol Genet 24:1036-44. 2015..We propose that RNA methylation studies in experimental models should be validated in primary clinical samples to ensure that they are applicable to the human situation. ..
- Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex IIAlistair T Pagnamenta
Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, UK
Mol Genet Metab 89:214-21. 2006..Comparable activities and stability of mitochondrial respiratory chain enzymes were demonstrated in both patients, so other reasons for the phenotypic variability are considered...
- Mutation analyses of Uroplakin II in children with renal tract malformationsDagan Jenkins
Nephro Urology Unit, UCL Institute of Child Health, London, WCIN IEH, UK
Nephrol Dial Transplant 21:3415-21. 2006..Mice with null mutation of another UP family member, UPII, are often born with congenital hydronephrosis. We hypothesized that UPII mutations may be present in humans with renal tract malformations...
- STAG3 truncating variant as the cause of primary ovarian insufficiencyPolona Le Quesne Stabej
Department of Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK
Eur J Hum Genet 24:135-8. 2016..Identification of an additional family highlights the importance of STAG3 in POI pathogenesis and suggests it should be evaluated in families affected with POI. ..
- Gentamicin, genetic variation and deafness in preterm childrenMaria Bitner-Glindzicz
Genetics and Genomic Medicine, University College London Institute of Child Health and Great Ormond Street Hospital for Children, 30 Guilford Street, London WC1N 1EH, UK
BMC Pediatr 14:66. 2014..1555A > G), permanent hearing loss can occur even when drug levels are within normal limits. The aim of the study is to investigate the burden that the m.1555A > G mutation represents to deafness in very preterm infants...
- Kantaputra mesomelic dysplasia: a second reported familyDeborah J Shears
Clinical and Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, London WC1N 3EH, United Kingdom
Am J Med Genet A 128:6-11. 2004..This is only the second reported family affected with Kantaputra mesomelic dysplasia (MIM 156232), a distinct mesomelic skeletal dysplasia...
- Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndromeCaroline Rooryck
Molecular Medicine Unit, University College London Institute of Child Health, London, UK
Nat Genet 43:197-203. 2011..Finally, we show that CL-K1 serves as a guidance cue for neural crest cell migration. Together, these findings demonstrate a role for complement pathway factors in fundamental developmental processes and in the etiology of 3MC syndrome...
- Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing lossM J Houseman
Molecular Medicine Unit, St James s University Hospital, Leeds LS9 7TF, UK
J Med Genet 38:20-5. 2001..In summary, we provide data that support M34T acting as a recessive GJB2 allele associated with mild-moderate prelingual hearing impairment...
- The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UKD C Blaydon
Clinical and Molecular Genetics Unit, Institute of Child Health, London, UK
Clin Genet 63:303-7. 2003..We found no evidence of mutations in USH1C in the patients with non-syndromic deafness, suggesting that the gene is not a major contributor to autosomal-recessive non-syndromic deafness in the UK...
- Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23J M Bork
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
Am J Hum Genet 68:26-37. 2001..A northern blot analysis of CDH23 showed a 9.5-kb transcript expressed primarily in the retina. CDH23 is also expressed in the cochlea, as is demonstrated by polymerase chain reaction amplification from cochlear cDNA...
- Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4Y J de Kok
Department of Human Genetics, University Hospital Nijmegen, Netherlands
Science 267:685-8. 1995..These findings indicate that POU3F4 mutations are a molecular cause of DFN3...
- Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testingT Hutchin
Molecular Medicine Unit, St James s University Hospital, University of Leeds, UK
Clin Genet 68:506-12. 2005..We suggest that screening the GJB2 and SLC26A4 genes should form the basis of any genetic testing programme for childhood deafness and highlight a number of important issues for consideration and future work...
- A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene familyS Abdelhak
Unite de Genetique Moleculaire Humaine, URA CNRS 1968, Institut Pasteur, Paris, France
Nat Genet 15:157-64. 1997..In the developing kidney, the expression pattern is indicative of a role for Eya1 in the metanephric cells surrounding the 'just-divided' ureteric branches...
- IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndromeJ Tyson
Unit of Clinical Genetics, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, UCL Medical School, 30 Guilford Street, London WC1N 1EH, UK
Hum Mol Genet 6:2179-85. 1997....
- Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cMS Rickard
The North Thames East Regional Clinical Molecular Genetics Laboratory, London, UK
Hum Genet 108:398-403. 2001....
- Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafnessD Shears
Clinical and Molecular Genetics Unit, Institute of Child Health, London, UK
Clin Genet 65:384-9. 2004....
- Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830)J E A Common
Center for Cutaneous Research, institutew of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, UK
Clin Exp Dermatol 30:688-93. 2005..This putative regulatory element of C x 26 expression may be a key factor related to the severe or profound deafness associated with del(GJB6-D13S1830)...
- Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3M Bitner-Glindzicz
Department of Clinical Genetics, Institute of Child Health, London, UK
Hum Mol Genet 4:1467-9. 1995