PMID- 10196713
OWN - NLM
STAT- MEDLINE
DCOM- 19990615
LR  - 20101118
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 7
IP  - 2
DP  - 1999 Feb-Mar
TI  - Mutation in the zonadhesin-like domain of alpha-tectorin associated with
      autosomal dominant non-syndromic hearing loss.
PG  - 255-8
AB  - A gene responsible for autosomal dominant non-syndromic hearing impairment in two
      families (DFNA8 and DFNA12) has recently been identified as TECTA encoding
      alpha-tectorin, a major component of the tectorial membrane. In these families,
      missense mutations within the zona pellucida domain of alpha-tectorin were
      associated with stable severe mid-frequency hearing loss. The present study
      reports linkage to DFNA12 in a new family with autosomal dominant high frequency 
      hearing loss progressing from mild to moderate severity. The candidate region
      refined to 3.8 cM still contained the TECTA gene. A missense mutation (C1619S)
      was identified in the zonadhesin-like domain. This mutation abolishes the first
      of the vicinal cysteines (1619Cys-Gly-Leu- 1622Cys) present in the D4 von
      Willebrand factor (vWf) type D repeat. These results further support the
      involvement of TECTA mutations in autosomal dominant hearing impairment, and
      suggest that vicinal cysteines are involved in tectorial membrane matrix
      assembly.
FAU - Alloisio, N
AU  - Alloisio N
AD  - Centre de Genetique Moleculaire et Cellulaire, CNRS UMR 5534, Universite Claude
      Bernard-Lyon I, Villeurbanne, France. alloisio@univ-lyon1.fr
FAU - Morle, L
AU  - Morle L
FAU - Bozon, M
AU  - Bozon M
FAU - Godet, J
AU  - Godet J
FAU - Verhoeven, K
AU  - Verhoeven K
FAU - Van Camp, G
AU  - Van Camp G
FAU - Plauchu, H
AU  - Plauchu H
FAU - Muller, P
AU  - Muller P
FAU - Collet, L
AU  - Collet L
FAU - Lina-Granade, G
AU  - Lina-Granade G
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
RN  - 0 (Extracellular Matrix Proteins)
RN  - 0 (GPI-Linked Proteins)
RN  - 0 (Membrane Glycoproteins)
RN  - 0 (Membrane Proteins)
RN  - 0 (TECTA protein, human)
RN  - 0 (zonadhesin)
SB  - IM
MH  - Extracellular Matrix Proteins/*genetics
MH  - Female
MH  - GPI-Linked Proteins
MH  - *Genes, Dominant
MH  - Genetic Linkage
MH  - *Hearing Loss, Sensorineural
MH  - Humans
MH  - Male
MH  - Membrane Glycoproteins/*genetics
MH  - Membrane Proteins/*genetics
MH  - *Mutation
MH  - Pedigree
EDAT- 1999/04/10 00:00
MHDA- 1999/04/10 00:01
CRDT- 1999/04/10 00:00
PHST- 1999/04/10 00:00 [pubmed]
PHST- 1999/04/10 00:01 [medline]
PHST- 1999/04/10 00:00 [entrez]
AID - 10.1038/sj.ejhg.5200273 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 1999 Feb-Mar;7(2):255-8. doi: 10.1038/sj.ejhg.5200273.