Characterization of a possible founder synonymous variant in <i>TECTA</i> in multiple individuals with autosomal recessive hearing loss-Reference-Cited by-同舟云学术

Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss

Published:2022-08-02 Issue:12 Volume:43 Page:1837-1843
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Chen Robert¹,Diaz‐Miranda Maria Alejandra²,Aref‐Eshghi Erfan²,Hartman Tiffiney R.³,Griffith Christopher⁴,Morrison Jennifer L.⁵,Wheeler Patricia G.⁵,Torti Erin⁶,Richard Gabriele⁶,Kenna Margaret⁷⁸,Dechene Elizabeth T.²,Spinner Nancy B.¹²,Bai Renkui⁶,Conlin Laura K.¹²,Krantz Ian D.³⁹,Amr Sami S.¹⁰¹¹^ORCID,Luo Minjie¹²^ORCID

Affiliation:

1. Department of Pathology and Laboratory Medicine The Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania USA

2. Division of Genomic Diagnostics The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

3. Division of Genetics, Roberts Individualized Medical Genetics Center The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

4. Department of Pediatrics University of South Florida Tampa Florida USA

5. Division of Genetics Arnold Palmer Hospital Orlando Florida USA

6. GeneDx Gaithersburg Maryland USA

7. Department of Otolaryngology and Communication Enhancement Boston Children's Hospital Boston Massachusetts USA

8. Department of Otolaryngology‐Head and Neck Surgery Harvard Medical School Boston Massachusetts USA

9. Department of Pediatrics The Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania USA

10. Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine Cambridge Massachusetts USA

11. Department of Pathology Harvard Medical School Boston Massachusetts USA

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24443

Reference23 articles.

1. Mutation in the zonadhesin-like domain of α-tectorin associated with autosomal dominant non-syndromic hearing loss

2. Alpha-tectorin involvement in hearing disabilities: one gene - two phenotypes

3. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

4. Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

5. GnomAD v2.1.1 and v3.1.2.https://gnomad.broadinstitute.org/

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Reevaluating the splice-altering variant in TECTA as a cause of nonsyndromic hearing loss DFNA8/12 by functional analysis of RNA;Human Molecular Genetics;2024-04-27

2. Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield;The Journal of Pediatrics;2023-11