Recombinant Human Nance-Horan syndrome protein (NHS), partial

1. A novel small deletion in the NHS gene is associated with Nance-Horan syndrome in a Chinese pedigree. PMID: 29402928
2. 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. PMID: 28464487
3. 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. PMID: 28922055
4. Our study expands the repertoire of NHS mutations and the related phenotype, including newly described anterior Y-sutural cataract and dental findings. PMID: 28557584
5. 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. PMID: 28061824
6. Our findings broaden the spectrum of NHS mutations causing Nance-Horan syndrome and phenotypic spectrum of the disease in Chinese patients. PMID: 25266737
7. 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. PMID: 25091991
8. mutations in NHS are the common cause of congenital cataract PMID: 24968223
9. Identification of a previously unreported frameshift mutation (c.558insA) in exon 1 of the NHS gene in a Turkish family with Nance-Horan Syndrome. PMID: 23566852
10. 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. PMID: 22229851
11. 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. PMID: 21559051
12. these data identify NHS as a new regulator of actin remodelling. PMID: 20332100
13. key functions in the regulation of eye, tooth, brain, and craniofacial development PMID: 14564667
14. independent identification of the gene (NHS)causative for Nance-Horan syndrome and extends the number of mutations identified PMID: 15466011
15. X-linked families with cataract should be carefully examined for both ocular and nonocular features, to exclude Nance-Horan syndrome. PMID: 15623749
16. 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. PMID: 16675532
17. 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 PMID: 17417607
18. 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. PMID: 18949062
19. Four novel protein truncation mutations and a large deletion of the NHS gene lead to Nance-Horan syndrome. PMID: 19414485

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HGNC: 7820

OMIM: 300457

KEGG: hsa:4810

STRING: 9606.ENSP00000369400

UniGene: Hs.201623