ArticleJournal of human genetics2012
USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1.
Article in Journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 26 citations in OpenAlex.
- Usher Syndrome.Audiology research · 2022Review
- Genetics of Inherited Retinal Diseases in Understudied Populations.Frontiers in genetics · 2022Review
- Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy.International journal of molecular sciences · 2021Review
- The small EF-hand protein CALML4 functions as a critical myosin light chain within the intermicrovillar adhesion complex.The Journal of biological chemistry · 2020Article
- Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy.Frontiers in genetics · 2020Review
- Novel eye genes systematically discovered through an integrated analysis of mouse transcriptomes and phenome.Computational and structural biotechnology journal · 2020Article
- Heterogeneous network embedding for identifying symptom candidate genes.Journal of the American Medical Informatics Association : JAMIA · 2018Article
- Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.European journal of human genetics : EJHG · 2016Article
- Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.Biochimica et biophysica acta · 2015Review
- SHIELD: an integrative gene expression database for inner ear research.Database : the journal of biological databases and curation · 2015Article
- Complexes of Usher proteins preassemble at the endoplasmic reticulum and are required for trafficking and ER homeostasis.Disease models & mechanisms · 2014Article
- Article
- Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.PloS one · 2014Article
- Usher proteins in inner ear structure and function.Physiological genomics · 2013Article
- Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2013Article
- Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.PloS one · 2013Article
- Usher syndrome: clinical features, molecular genetics and advancing therapeutics.Therapeutic advances in ophthalmologyReview
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 3 countries.
Funding
Abstract
We ascertained two large Pakistani consanguineous families (PKDF231 and PKDF608) segregating profound hearing loss, vestibular dysfunction, and retinitis pigmentosa; the defining features of Usher syndrome type 1 (USH1). To date, seven USH1 loci have been reported. Here, we map a novel locus, USH1K, on chromosome 10p11.21-q21.1. In family PKDF231, we performed a genome-wide linkage screen and found a region of homozygosity shared among the affected individuals at chromosome 10p11.21-q21.1. Meiotic recombination events in family PKDF231 define a critical interval of 11.74 cM (20.20 Mb) bounded by markers D10S1780 (63.83 cM) and D10S546 (75.57 cM). Affected individuals of family PKDF608 were also homozygous for chromosome 10p11.21-q21.1-linked STR markers. Of the 85 genes within the linkage interval, PCDH15, GJD4, FZD4, RET and LRRC18 were sequenced in both families, but no potential pathogenic mutation was identified. The USH1K locus overlaps the non-syndromic deafness locus DFNB33 raising the possibility that the two disorders may be caused by allelic mutations.
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