Gene Symbol: USB1
Description: U6 snRNA biogenesis 1
Alias: C16orf57, HVSL1, Mpn1, hUsb1, HVSL motif containing 1, U six biogenesis 1, UPF0406 protein C16orf57, mutated in poikiloderma with neutropenia protein 1
- Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia geneLudovica Volpi
Universita degli Studi di Milano, Dipartimento di Biologia e Genetica per le Scienze Mediche, Milan, Italy
Am J Hum Genet 86:72-6. 2010..The mutation destroys the invariant AG acceptor site of intron 4 of the evolutionarily conserved C16orf57 gene. Two distinct deleterious mutations (c.502A>G and c...
- Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteriaA W Arnold
Department of Dermatology, University Hospital Basel, 4031 Basel, Switzerland
Br J Dermatol 163:866-9. 2010..The inheritance is autosomal recessive, and mutations in a new gene, C16orf57, were recently described in two kindreds...
- Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotypeD Concolino
Dipartimento di Pediatria, Università Magna Graecia, Ospedale Civile A Pugliese, Catanzaro, Italy
Am J Med Genet A 152:2588-94. 2010..Recently, this consanguineous family was reported and shown to be informative in identifying the C16orf57 gene as the causative gene for this syndrome. Here we present the clinical data in detail...
- Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndromeAmanda J Walne
Centre for Paediatrics, Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Barts and The London Children s Hospital, 4 Newark Street, London, UK
Hum Mol Genet 19:4453-61. 2010..This region included the C16orf57 gene recently identified to be mutated in poikiloderma with neutropenia (PN), an inherited poikiloderma ..
- Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with NeutropeniaCarol Clericuzio
Department of Pediatrics, University of New Mexico School of Medicine, Albuquerque, New Mexico, USA
Am J Med Genet A 155:337-42. 2011..b>C16orf57 has recently been identified as a causative gene in PN...
- Systematic search for neutropenia should be part of the first screening in patients with poikilodermaJuliette Piard
Centre de Genetique Humaine, CHU Besancon, France
Eur J Med Genet 55:8-11. 2012..with high genetic heterogeneity and Clericuzio-type Poikiloderma with Neutropenia (CPN) due to mutations in the C16orf57 gene. Mutations in the RECQL4 gene are only observed in two thirds of RTS patients...