| Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline. | Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline.
Clarke JM, Alikian M, Xiao S, Kasperaviciute D, Thomas E, Turbin I, Olupona K, Cifra E, Curetean E, Ferguson T, Redhead J, Genomics England Research Consortium, Shovlin CL., Free PMC Article | 07/10/2021 |
| Deleterious NHS mutations are associated with Nance Horan syndrome. | Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families.
Hernández V, Pascual-Camps I, Aparisi MJ, Martínez-Matilla M, Martínez F, Cerón JA, Pedrola L. | 07/11/2020 |
| Nance-Horan syndrome (NHS) is an X-linked inheritance disorder characterized by bilateral congenital cataracts, and facial and dental dysmorphism. This disorder is caused by mutations in the NHS gene. However, NHS may be difficult to detect in individuals with subtle facial dysmorphism and dental abnormalities in whom congenital cataracts are the primary clinical manifestations. | Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.
Ling C, Sui R, Yao F, Wu Z, Zhang X, Zhang S., Free PMC Article | 08/24/2019 |
| A novel small deletion in the NHS gene is associated with Nance-Horan syndrome in a Chinese pedigree. | A novel small deletion in the NHS gene associated with Nance-Horan syndrome.
Li H, Yang L, Sun Z, Yuan Z, Wu S, Sui R., Free PMC Article | 12/22/2018 |
| Here, we report a microdeletion of 170,6 Kb at Xp22.13 (17.733.948-17.904.576) (GRCh37/hg19).The microdeletion harbors the NHS, SCLML1, and RAI2 genes and results in a phenotype consistent with Nance-Horan syndromesyndrome and developmental delay. | A novel Xp22.13 microdeletion in Nance-Horan syndrome.
Accogli A, Traverso M, Madia F, Bellini T, Vari MS, Pinto F, Capra V. | 06/2/2018 |
| This is the first report of Nance-Horan syndrome due to a skewed X chromosome inactivation resulting from a balanced translocation t(X;1) that disrupts the NHS gene expression, with important implications for clinical presentation and genetic counseling. | Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature.
Gómez-Laguna L, Martínez-Herrera A, Reyes-de la Rosa ADP, García-Delgado C, Nieto-Martínez K, Fernández-Ramírez F, Valderrama-Atayupanqui TY, Morales-Jiménez AB, Villa-Morales J, Kofman S, Cervantes A, Morán-Barroso VF. | 03/31/2018 |
| Our study expands the repertoire of NHS mutations and the related phenotype, including newly described anterior Y-sutural cataract and dental findings. | NHS Gene Mutations in Ashkenazi Jewish Families with Nance-Horan Syndrome.
Shoshany N, Avni I, Morad Y, Weiner C, Einan-Lifshitz A, Pras E. | 01/20/2018 |
| Results revealed a novel splice site mutation (NM_198270: c.1045 + 2T > A) in the 5' consensus donor site of intron 4 in the NHS gene in a Chinese family. This mutation led to aberrantly spliced mRNA, which is likely to result in a truncated NHS protein. | A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.
Tian Q, Li Y, Kousar R, Guo H, Peng F, Zheng Y, Yang X, Long Z, Tian R, Xia K, Lin H, Pan Q., Free PMC Article | 05/20/2017 |
| Our findings broaden the spectrum of NHS mutations causing Nance-Horan syndrome and phenotypic spectrum of the disease in Chinese patients. | Identification of a novel NHS mutation in a Chinese family with Nance-Horan syndrome.
Li A, Li B, Wu L, Yang L, Chen N, Ma Z. | 10/17/2015 |
| A nonsense mutation c.322G>T (E108X) co-segregated with the disease in a family. Multiple sequence alignments showed that codon 108, where the mutation (c.322G>T) occurred, was located within a phylogenetically conserved region. | Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.
Hong N, Chen YH, Xie C, Xu BS, Huang H, Li X, Yang YQ, Huang YP, Deng JL, Qi M, Gu YS., Free PMC Article | 05/16/2015 |
| mutations in NHS are the common cause of congenital cataract | Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.
Sun W, Xiao X, Li S, Guo X, Zhang Q., Free PMC Article | 02/28/2015 |
| Identification of a previously unreported frameshift mutation (c.558insA) in exon 1 of the NHS gene in a Turkish family with Nance-Horan Syndrome. | A Turkish family with Nance-Horan Syndrome due to a novel mutation.
Tug E, Dilek NF, Javadiyan S, Burdon KP, Percin FE. | 12/21/2013 |
| Lens opacities centered around the posterior Y-suture in the context of certain facial features were sensitive and specific clinical signs of carrier status for NHS mutation in asymptomatic females. | Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).
Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS. | 09/29/2012 |
| Direct sequencing of NHS sequences in a Tunisian family identified the first missense mutation (P551S) and a reported SNP-polymorphism (L1319F) in exon 6, a reported UTR-SNP (c.7422 C>T) and a novel one (c.8239 T>A) in exon 8. | The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.
Chograni M, Rejeb I, Jemaa LB, Châabouni M, Bouhamed HC., Free PMC Article | 10/1/2011 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium., Free PMC Article | 09/15/2010 |
| these data identify NHS as a new regulator of actin remodelling. | The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology.
Brooks SP, Coccia M, Tang HR, Kanuga N, Machesky LM, Bailly M, Cheetham ME, Hardcastle AJ., Free PMC Article | 08/30/2010 |
| Four novel protein truncation mutations and a large deletion of the NHS gene lead to Nance-Horan syndrome. | X-linked cataract and Nance-Horan syndrome are allelic disorders.
Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ., Free PMC Article | 01/21/2010 |
| This study aimed to identify the causative mutations in new patients diagnosed with Nance-Horan syndrome and to investigate the effect of mutations on subcellular localization of the NHS-A protein. | Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.
Sharma S, Burdon KP, Dave A, Jamieson RV, Yaron Y, Billson F, Van Maldergem L, Lorenz B, Gécz J, Craig JE., Free PMC Article | 01/21/2010 |
| independent identification of the gene (NHS)causative for Nance-Horan syndrome and extends the number of mutations identified | Identification of the gene for Nance-Horan syndrome (NHS).
Brooks SP, Ebenezer ND, Poopalasundaram S, Lehmann OJ, Moore AT, Hardcastle AJ., Free PMC Article | 01/21/2010 |
| X-linked families with cataract should be carefully examined for both ocular and nonocular features, to exclude Nance-Horan syndrome. | Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family.
Ramprasad VL, Thool A, Murugan S, Nancarrow D, Vyas P, Rao SK, Vidhya A, Ravishankar K, Kumaramanickavel G. | 01/21/2010 |
| identification of the frequency and distribution of NHS gene mutations and comparison of genotype with Nance-Horan phenotype in five North American NHS families; this report extends the number of unique identified NHS mutations to 14 | Identification of three novel NHS mutations in families with Nance-Horan syndrome.
Huang KM, Wu J, Brooks SP, Hardcastle AJ, Lewis RA, Stambolian D., Free PMC Article | 01/21/2010 |
| key functions in the regulation of eye, tooth, brain, and craniofacial development | Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.
Burdon KP, McKay JD, Sale MM, Russell-Eggitt IM, Mackey DA, Wirth MG, Elder JE, Nicoll A, Clarke MP, FitzGerald LM, Stankovich JM, Shaw MA, Sharma S, Gajovic S, Gruss P, Ross S, Thomas P, Voss AK, Thomas T, Gécz J, Craig JE., Free PMC Article | 01/21/2010 |
| We demonstrate the differential expression of the two NHS isoforms, NHS-A and NHS-1A, and differences in the subcellular localization of the proteins encoded by these isoforms. | Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.
Sharma S, Ang SL, Shaw M, Mackey DA, Gécz J, McAvoy JW, Craig JE. | 01/21/2010 |