Nonsense variant in a consanguineous family expands the phenotype of <i>KPTN</i> gene‐related syndrome to include hearing impairment-Reference-Cited by-同舟云学术

Nonsense variant in a consanguineous family expands the phenotype of KPTN gene‐related syndrome to include hearing impairment

Published:2023-06-13 Issue:4 Volume:104 Page:499-501
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Liaqat Khurram¹^ORCID,Bharadwaj Thashi¹,Shah Khadim²^ORCID,Nasir Abdul³^ORCID,Acharya Anushree¹,Khan Saadullah⁴,Ullah Irfan⁵,Schrauwen Isabelle¹,Ahmad Wasim⁶,Leal Suzanne M.¹⁷

Affiliation:

1. Department of Neurology, Center for Statistical Genetics, Gertrude H. Sergievsky Center Columbia University Medical Center New York New York USA

2. Department of Biotechnology COMSATS University Islamabad Islamabad Khyber Pakhtunkhwa Pakistan

3. Department of Anesthesiology Second Affiliated Hospital of Zhengzhou University Zhengzhou China

4. Department of Biotechnology and Genetic Engineering Kohat University of Science and Technology Kohat Khyber Pakhtunkhwa Pakistan

5. Department of Chemistry Shaheed Benazir Bhutto University Sheringal Pakistan

6. Department of Biochemistry, Faculty of Biological Sciences Quaid‐I‐Azam University Islamabad Pakistan

7. Columbia University Medical Center Institute for Alzheimer's Disease and the Aging Brain New York New York USA

Funder

Higher Education Commision, Pakistan

National Institute on Deafness and Other Communication Disorders

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14390

Reference4 articles.

1. Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

2. 2E4 (Kaptin): A novel actin-associated protein from human blood platelets found in lamellipodia and the tips of the stereocilia of the inner ear

3. 2E4/Kaptin (KPTN) - a candidate gene for the hearing loss locus, DFNA4

4. Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing

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