PMID- 10581026
OWN - NLM
STAT- MEDLINE
DCOM- 19991220
LR  - 20220224
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 23
IP  - 4
DP  - 1999 Dec
TI  - Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).
PG  - 413-9
AB  - We report that mutation of COL11A2 causes deafness previously mapped to the
      DFNA13 locus on chromosome 6p. We found two families (one American and one Dutch)
      with autosomal dominant, non-syndromic hearing loss to have mutations in COL11A2 
      that are predicted to affect the triple-helix domain of the collagen protein. In 
      both families, deafness is non-progressive and predominantly affects middle
      frequencies. Mice with a targeted disruption of Col11a2 also were shown to have
      hearing loss. Electron microscopy of the tectorial membrane of these mice
      revealed loss of organization of the collagen fibrils. Our findings revealed a
      unique ultrastructural malformation of inner-ear architecture associated with
      non-syndromic hearing loss, and suggest that tectorial membrane abnormalities may
      be one aetiology of sensorineural hearing loss primarily affecting the
      mid-frequencies.
FAU - McGuirt, W T
AU  - McGuirt WT
AD  - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head
      and Neck Surgery, University of Iowa, Iowa City, Iowa, USA.
FAU - Prasad, S D
AU  - Prasad SD
FAU - Griffith, A J
AU  - Griffith AJ
FAU - Kunst, H P
AU  - Kunst HP
FAU - Green, G E
AU  - Green GE
FAU - Shpargel, K B
AU  - Shpargel KB
FAU - Runge, C
AU  - Runge C
FAU - Huybrechts, C
AU  - Huybrechts C
FAU - Mueller, R F
AU  - Mueller RF
FAU - Lynch, E
AU  - Lynch E
FAU - King, M C
AU  - King MC
FAU - Brunner, H G
AU  - Brunner HG
FAU - Cremers, C W
AU  - Cremers CW
FAU - Takanosu, M
AU  - Takanosu M
FAU - Li, S W
AU  - Li SW
FAU - Arita, M
AU  - Arita M
FAU - Mayne, R
AU  - Mayne R
FAU - Prockop, D J
AU  - Prockop DJ
FAU - Van Camp, G
AU  - Van Camp G
FAU - Smith, R J
AU  - Smith RJ
LA  - eng
SI  - GENBANK/AF100956
SI  - GENBANK/AL031128
SI  - GENBANK/J04974
SI  - GENBANK/S54563
SI  - GENBANK/U16790
GR  - 5-T32-DC00040/DC/NIDCD NIH HHS/United States
GR  - R01-DC03544/DC/NIDCD NIH HHS/United States
GR  - Z01-DC00054-01/DC/NIDCD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 9007-34-5 (Collagen)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Chromosomes, Human, Pair 6/genetics
MH  - Collagen/*genetics
MH  - DNA/genetics
MH  - Disease Models, Animal
MH  - Female
MH  - Genes, Dominant
MH  - Hearing Loss, Sensorineural/*genetics/pathology/physiopathology
MH  - Humans
MH  - In Situ Hybridization
MH  - Male
MH  - Mice
MH  - Mice, Knockout
MH  - Molecular Sequence Data
MH  - *Mutation, Missense
MH  - Pedigree
MH  - Polymorphism, Single-Stranded Conformational
EDAT- 1999/12/02 09:00
MHDA- 2001/03/23 10:01
CRDT- 1999/12/02 09:00
PHST- 1999/12/02 09:00 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/12/02 09:00 [entrez]
AID - 10.1038/70516 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Dec;23(4):413-9. doi: 10.1038/70516.