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Association of Clinical Features With Mutation of TECTA in a Family With Autosomal Dominant Hearing Loss
Satoshi Iwasaki, MD;
Daisuke Harada, MD;
Shin-ichi Usami, MD;
Mitsuyoshi Nagura, MD;
Tamotsu Takeshita, MD;
Tomoyuki Hoshino, MD
Arch Otolaryngol Head Neck Surg. 2002;128:913-917.
Background The TECTA gene, which encodes  -tectorin,
has recently been cloned. -Tectorin is a major component of the noncollagenous
matrix of the tectorial membrane. Nonsyndromic hearing impairment caused by TECTA mutations has been reported in Austrian, Belgian,
Swedish, French, and Lebanese families. The phenotypes and genotypes were
different among these families.
Materials and Methods Our study family displayed autosomal dominant hearing impairment through
3 generations. We sequenced the coding exons of the TECTA gene in 4 affected individuals, and we report the clinical features
in a Japanese family with nonsyndromic hearing impairment and a mutation in
the TECTA gene.
Results The 5-frequency average of 250, 500, 1000, 2000, and 4000 Hz in 4 affected
individuals was 42.2 ± 3.7 (mean ± SD) dB in the right ear and
42.3 ± 4.5 dB in the left ear. The mean age at onset of hearing impairment
was 5 years. The progression of hearing impairment was not confirmed for a
15-year period, from the age of 6 to 21 years, in 1 affected member. The 4
patients had a G A missense mutation at nucleotide 6063 in exon 20. This
mutation replaces arginine at residue 2021 with histidine (R2021H).
Conclusions All 4 affected members showed symmetrical and stable bilateral mild
to moderate hearing impairment in the midfrequencies. The mean threshold level
of 2000 Hz was the worst among the 5 frequencies. All the affected members
had normal vestibular function. The mutation in the TECTA gene, localized in the zona pellucida domain, was detected in all
4 affected individuals. The localization of the mutation in the different
modules of the protein may have caused the different clinical features.
From the Department of Otolaryngology, Hamamatsu University School
of Medicine, Hamamatsu City (Drs Iwasaki, Nagura, Takeshita, and Hoshino)
and Shinshu University School of Medicine, Matsumoto City (Drs Harada and
Usami), Japan.
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