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J Pediatr Genet 2023; 12(04): 348-351
DOI: 10.1055/s-0041-1733948
Case-Based Review

Novel FERMT3 and PTPRQ Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing Loss

Gabriela de Toledo Passos Candelaria 
1   Department of Pediatrics, Hematology-Oncology Service, Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil
,
Alexandre de A. Antunes
1   Department of Pediatrics, Hematology-Oncology Service, Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil
,
Antonio C. Pastorino
2   Allergy and Immunology Unit, Department of Pediatrics, Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil
,
Mayra de B. Dorna
2   Allergy and Immunology Unit, Department of Pediatrics, Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil
,
Evelin A. Zanardo
3   Department of Pathology, Cytogenomics Lab—LIM 03, Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil
,
Alexandre T. Dias
3   Department of Pathology, Cytogenomics Lab—LIM 03, Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil
,
Sofia M. M. Sugayama
1   Department of Pediatrics, Hematology-Oncology Service, Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil
,
Vicente Odone-Filho
1   Department of Pediatrics, Hematology-Oncology Service, Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil
,
Leslie D. Kulikowski
3   Department of Pathology, Cytogenomics Lab—LIM 03, Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil
,
Marlene P. Garanito
1   Department of Pediatrics, Hematology-Oncology Service, Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil
› Author Affiliations Funding None.
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Abstract

Leukocyte adhesion deficiency-III (LAD-III) is a rare genetic disease caused by defective integrin activation in hematopoietic cells due to mutations in the FERMT3 gene. The PTPRQ gene encodes the protein tyrosine phosphatase receptor Q and is essential for the normal maturation and function of hair bundle in the cochlea. Homozygous PTPRQ mutations impair the stereocilia in hair cells which lead to nonsyndromic sensorineural hearing loss (SNHL) with vestibular dysfunction. Here, we report two novel pathogenic homozygous mutations found in two genes, FERMT3 and PTPRQ, in a Brazilian patient with LAD-III and SNHL, which may develop our understanding of the phenotype–genotype correlation and prognosis of patients with these rare diseases.

Keywords

leukocyte adhesion deficiency - FERMT3 - hearing loss - PTPRQ - mutation

Ethical Approval

Informed consent from the parents and approval from our institution review board were obtained prior to the molecular studies and case description.




Publication History

Received: 05 April 2021

Accepted: 02 July 2021

Article published online:
20 August 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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