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

Gabriela de Toledo Passos Candelaria; Alexandre de A. Antunes; Antonio C. Pastorino; Mayra de B. Dorna; Evelin A. Zanardo; Alexandre T. Dias; Sofia M. M. Sugayama; Vicente Odone-Filho; Leslie D. Kulikowski; Marlene P. Garanito

doi:10.1055/s-0041-1733948

Journal of Pediatric Genetics, Inhaltsverzeichnis

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

¹Department 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

¹Department 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

²Allergy 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

²Allergy 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

³Department 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

³Department 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

¹Department 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

¹Department 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

³Department 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

¹Department of Pediatrics, Hematology-Oncology Service, Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil

› Institutsangaben

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

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Referenzen

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