Article
Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment.
Hearing research - 1 Apr 2017
Wesdorp Mieke, van de Kamp Jiddeke M, Hensen Erik F, Schraders Margit, Oostrik Jaap, Yntema Helger G, Feenstra Ilse, Admiraal Ronald J C, Kunst Henricus P M, Tekin Mustafa, Kanaan Moien, Kremer Hannie, Pennings Ronald J E
Abstract excerpt
DFNB28 is characterized by prelingual, severe to profound sensorineural hearing impairment (HI). It is associated with mutations in exon 6 and 7 of TRIOBP and has not been reported in the European population. Here, we describe two isolated cases of Dutch origin with congenital, moderate HI and compound heterozygous mutations in TRIOBP. Three of the mutations are novel, one nonsense mutation (c.5014G>T...
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