Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients

The Annals of Otology, Rhinology, and Laryngology
Yoh-Ichiro IwasaShin-Ichi Usami

Abstract

This study aims to document the clinical features of patients with COL11A2 mutations and to describe the usefulness of massively parallel sequencing. One thousand one hundred twenty (1120) Japanese hearing loss patients from 53 ENT departments nationwide participated in this study. Massively parallel sequencing of 63 genes implicated in hearing loss was performed to identify the genetic causes in the Japanese hearing loss patients. A novel mutation in COL11A2 (c.3937_3948delCCCCCAGGGCCA) was detected in an affected family, and it was segregated in all hearing loss individuals. The clinical findings of this family were compatible with non-ocular Stickler syndrome. Orofacial features of mid-facial hypoplasia and slowly progressive mild to moderate hearing loss were also presented. Audiological examinations showed favorable auditory performance with hearing aid(s). This is the first case report of the genetic diagnosis of a non-ocular Stickler syndrome family in the Japanese population. We suggest that it is important to take both genetic analysis data and clinical symptoms into consideration to make an accurate diagnosis.

References

Dec 2, 1999·Nature Genetics·W T McGuirtR J Smith
Apr 4, 2003·European Journal of Human Genetics : EJHG·Miia MelkoniemiLeena Ala-Kokko
Sep 17, 2004·American Journal of Medical Genetics. Part a·Mirka Marjanna VuoristoLeena Ala-Kokko
Nov 26, 2004·The Annals of Otology, Rhinology, and Laryngology·Els M R De LeenheerCor W R J Cremers
Jun 21, 2005·Genome Research·Gregory M CooperArend Sidow
Dec 1, 2006·Journal of the Association for Research in Otolaryngology : JARO·Rutger F PlantingaArjan J Bosman
Jul 16, 2009·Genome Research·Sung Chun, Justin C Fay
Oct 28, 2009·Genome Research·Katherine S PollardAdam Siepel
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Jul 6, 2010·Nucleic Acids Research·Kai WangHakon Hakonarson
Aug 3, 2010·Nature Methods·Jana Marie SchwarzDominik Seelow
Jan 5, 2011·American Journal of Medical Genetics. Part a·Hülya KayseriliZ Oya Uyguner
Jan 7, 2011·International Journal of Pediatric Otorhinolaryngology·Suna Tokgöz-YılmazMustafa Tekin
Jan 17, 2012·American Journal of Medical Genetics. Part a·Stuart W TompsonDaniel H Cohn
Jan 1, 2011·BMJ Case Reports·Upendra JainAmitabh Kallury
Jun 22, 2012·Journal of Medical Genetics·Xiao Chang, Kai Wang
Nov 1, 2012·Orphanet Journal of Rare Diseases·Frederic R E AckeEls M R De Leenheer
Nov 7, 2012·Nature·UNKNOWN 1000 Genomes Project ConsortiumGil A McVean

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Citations

Jan 21, 2016·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·Frederic R AckeEls M R De Leenheer
Jul 17, 2015·International Journal of Rheumatic Diseases·Pooja DhaonNilesh Nolkha
Nov 3, 2016·Current Opinion in Pediatrics·Christina M Sloan-Heggen, Richard J H Smith

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Software Mentioned

PhyloP
GERP
Torrent Variant Caller
Sorting Intolerant Tolerant ( SIFT
Torrent Mapping Alignment Program
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MPS
ANNOVAR
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