Literature DB >> 33605226

Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation.

Andrea Ciorba1, Virginia Corazzi1, Michela Melegatti1, Anna Morgan2, Giulia Pelliccione3, Giorgia Girotto3, Stefania Bigoni4.   

Abstract

This paper aims to present a third world case of Non-Syndromic sensorineural hearing loss (NSHL) due to a novel missense variant in COL11A1 gene, defined as DFNA37 non-syndromic hearing loss. The clinical features of a 6-year-old boy affected by a bilateral moderate to severe down-sloping sensorineural hearing loss are presented, as well as the genetic analysis, the latter identifying a heterozygous missense variation in the COL11A1 gene. In addition, in families with autosomal dominant transmission, COL11A1 gene should be considered in the genetic workup of the NSHL with prelingual onset.

Entities:  

Year:  2021        PMID： 33605226      PMCID： PMC7901426          DOI： 10.5152/iao.2020.8179

Source DB:  PubMed          Journal:  J Int Adv Otol        ISSN： 1308-7649            Impact factor:   1.017


  10 in total

1.  Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

Authors:  S Annunen; J Körkkö; M Czarny; M L Warman; H G Brunner; H Kääriäinen; J B Mulliken; L Tranebjaerg; D G Brooks; G F Cox; J R Cruysberg; M A Curtis; S L Davenport; C A Friedrich; I Kaitila; M R Krawczynski; A Latos-Bielenska; S Mukai; B R Olsen; N Shinno; M Somer; M Vikkula; J Zlotogora; D J Prockop; L Ala-Kokko
Journal:  Am J Hum Genet       Date:  1999-10       Impact factor: 11.025

2.  Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.

Authors:  Stuart W Tompson; Carlos A Bacino; Nicole P Safina; Michael B Bober; Virginia K Proud; Tara Funari; Michael F Wangler; Lisette Nevarez; Leena Ala-Kokko; William R Wilcox; David R Eyre; Deborah Krakow; Daniel H Cohn
Journal:  Am J Hum Genet       Date:  2010-10-28       Impact factor: 11.025

3.  Stickler syndrome: clinical characteristics and diagnostic criteria.

Authors:  Peter S Rose; Howard P Levy; Ruth M Liberfarb; Joie Davis; Y Szymko-Bennett; Benjamin I Rubin; Ekaterini Tsilou; Andrew J Griffith; Clair A Francomano
Journal:  Am J Med Genet A       Date:  2005-10-15       Impact factor: 2.802

4.  Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.

Authors:  Anna Morgan; Daniel C Koboldt; Elizabeth S Barrie; Erin R Crist; Gema García García; Massimo Mezzavilla; Flavio Faletra; Theresa Mihalic Mosher; Richard K Wilson; Catherine Blanchet; Kandamurugu Manickam; Anne-Francoise Roux; Paolo Gasparini; Daniele Dell'Orco; Giorgia Girotto
Journal:  Hum Mutat       Date:  2019-10-01       Impact factor: 4.878

5.  A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.

Authors:  Marja Majava; Kristien P Hoornaert; Deborah Bartholdi; Mieke C Bouma; Katelijne Bouman; Marta Carrera; Koenraad Devriendt; Jane Hurst; George Kitsos; Dunja Niedrist; Michael B Petersen; Debbie Shears; Irene Stolte-Dijkstra; J M Van Hagen; Leena Ala-Kokko; Minna Männikkö; Geert R Mortier
Journal:  Am J Med Genet A       Date:  2007-02-01       Impact factor: 2.802

6.  HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.

Authors:  Hela Azaiez; Amanda R Decker; Kevin T Booth; Allen C Simpson; A Eliot Shearer; Patrick L M Huygen; Fengxiao Bu; Michael S Hildebrand; Paul T Ranum; Seiji B Shibata; Ann Turner; Yuzhou Zhang; William J Kimberling; Robert A Cornell; Richard J H Smith
Journal:  PLoS Genet       Date:  2015-03-27       Impact factor: 5.917

7.  Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss.

Authors:  Giorgia Girotto; Khalid Abdulhadi; Annalisa Buniello; Diego Vozzi; Danilo Licastro; Angela d'Eustacchio; Dragana Vuckovic; Moza Khalifa Alkowari; Karen P Steel; Ramin Badii; Paolo Gasparini
Journal:  PLoS One       Date:  2013-12-02       Impact factor: 3.240

8.  Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients.

Authors:  D Vozzi; A Morgan; D Vuckovic; A D'Eustacchio; K Abdulhadi; E Rubinato; R Badii; P Gasparini; G Girotto
Journal:  Gene       Date:  2014-03-20       Impact factor: 3.688

9.  Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.

Authors:  Maiko Miyagawa; Takehiko Naito; Shin-ya Nishio; Naoyuki Kamatani; Shin-ichi Usami
Journal:  PLoS One       Date:  2013-08-13       Impact factor: 3.240

10.  Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.

Authors:  Kevin T Booth; James W Askew; Zohreh Talebizadeh; Patrick L M Huygen; James Eudy; Judith Kenyon; Denise Hoover; Michael S Hildebrand; Katherine R Smith; Melanie Bahlo; William J Kimberling; Richard J H Smith; Hela Azaiez; Shelley D Smith
Journal:  Genet Med       Date:  2018-09-24       Impact factor: 8.822
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.