A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family.
Moreno-Pelayo
M A
MA
del Castillo
I
I
Villamar
M
M
Romero
L
L
Hernández-Calvín
F J
FJ
Herraiz
C
C
Barberá
R
R
Navas
C
C
Moreno
F
F
D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D003545:Cysteine / Q000235:genetics* / Q000378:metabolism; D003638:Deafness / Q000235:genetics* / Q000503:physiopathology; D016326:Extracellular Matrix Proteins / Q000737:chemistry* / Q000235:genetics* / Q000378:metabolism; D005260:Female; D058851:GPI-Linked Proteins; D005787:Gene Frequency; D005799:Genes, Dominant / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D008562:Membrane Glycoproteins / Q000737:chemistry* / Q000235:genetics* / Q000378:metabolism; D018895:Microsatellite Repeats / Q000235:genetics; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013030:Spain; D015044:Zona Pellucida / Q000378:metabolism*
D016326:Extracellular Matrix Proteins; D058851:GPI-Linked Proteins; D008562:Membrane Glycoproteins; C491350:TECTA protein, human; D003545:Cysteine