Studija slučaja
https://doi.org/10.3325/cmj.2023.64.329
Clinical relevance of the TECTA c.6183G>T variant identified in a family with autosomal dominant hearing loss: a case report
Ivona Sansović
orcid.org/0000-0002-9325-0847
; Department of Medical and Laboratory Genetics, Endocrinology and Diabetology, Children’s Hospital Zagreb, University of Zagreb, School of Medicine, Zagreb, Croatia
*
Ana-Maria Meašić
orcid.org/0000-0001-5925-0934
; Department of Medical and Laboratory Genetics, Endocrinology and Diabetology, Children’s Hospital Zagreb, University of Zagreb, School of Medicine, Zagreb, Croatia
Ljubica Odak
; Department of Medical and Laboratory Genetics, Endocrinology and Diabetology, Children’s Hospital Zagreb, University of Zagreb, School of Medicine, Zagreb, Croatia
Mijana Kero
; Department of Pediatrics, University Hospital Center Split, Split, Croatia
* Dopisni autor.
Sažetak
Missense variants in the α-tectorin gene (TECTA) cause autosomal dominant (DFNA8/A12) non-syndromic hearing
loss (ADNSHL) and account for a considerable number of
ADNSHL cases. According to genotype-phenotype correlation studies, missense variants in the zona pellucida (ZP)
domain of α-tectorin predominantly cause mid-frequency
HL. Here, we report on clinical exome sequencing results
in a large family with early-onset, sensorineural, moderate-to-severe mid-frequency HL. We identified one heterozygous c.6183G>T variant near the ZP domain of TECTA
segregating in five family members. This variant was previously reported as a variant of uncertain significance in a
family with ADNSHL. On the basis of specific segregation in
the currently studied family and the general guidelines of
the American College of Medical Genetics and Genomics,
we argue that the TECTA c.6183G>T variant should be considered a likely pathogenic cause of ADNSHL. This report
adds to the knowledge on the rare c.6183G>T missense
variant, which affects the immediate vicinity of the ZP domain in TECTA. Our findings highlight the importance of
clinical evaluation in patients with familial HL and of studying family segregation when assessing the pathogenicity
of a variant.
Ključne riječi
Hrčak ID:
331868
URI
Datum izdavanja:
30.9.2024.
Posjeta: 36 *