Identification of a novel CLRN1 gene mutation in Usher syndrome type 3: two case reports.
OBJECTIVE
This study examines the CLRN1 gene mutation analysis in Japanese patients who were diagnosed with Usher syndrome type 3 (USH3) on the basis of clinical findings.


METHODS
Genetic analysis using massively parallel DNA sequencing (MPS) was conducted to search for 9 causative USH genes in 2 USH3 patients.


RESULTS
We identified the novel pathogenic mutation in the CLRN1 gene in 2 patients. The missense mutation was confirmed by functional prediction software and segregation analysis. Both patients were diagnosed as having USH3 caused by the CLRN1 gene mutation.


CONCLUSIONS
This is the first report of USH3 with a CLRN1 gene mutation in Asian populations. Validating the presence of clinical findings is imperative for properly differentiating among USH subtypes. In addition, mutation screening using MPS enables the identification of causative mutations in USH. The clinical diagnosis of this phenotypically variable disease can then be confirmed.
Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.
Hidekane
H
Yoshimura
Department of Otorhinolaryngology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Chie
C
Oshikawa
Department of Otorhinolaryngology, Shiga University School of Medical Science, Otsu, Japan.
Jun
J
Nakayama
Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Science, Shinshu University School of Medicine, Matsumoto, Japan.
Hideaki
H
Moteki
Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Science, Shinshu University School of Medicine, Matsumoto, Japan usami@shinshu-u.ac.jp.
Shin-Ichi
S
Usami
D044466:Asian People / Q000235:genetics; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D017422:Sequence Analysis, DNA / Q000379:methods*; D052245:Usher Syndromes / Q000235:genetics*
C437067:CLRN1 protein, human; D008565:Membrane Proteins
CLRN1; Usher syndrome; deaf-blindness; genetics of hearing loss; massively parallel sequencing