Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB

Nuno Maia; Ana Rita Soares; Ana Maria Fortuna; Isabel Marques; Ana Gonçalves; Rosário Santos; Manuel Melo Pires; Arjan P M de Brouwer; Paula Jorge

doi:10.1002/ccr3.3146

Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB

Clin Case Rep. 2020 Jul 30;8(12):2476-2482. doi: 10.1002/ccr3.3146. eCollection 2020 Dec.

Authors

Nuno Maia^{1

2}, Ana Rita Soares³, Ana Maria Fortuna^{2

3}, Isabel Marques^{1

2}, Ana Gonçalves^{1

2}, Rosário Santos^{1

2}, Manuel Melo Pires⁴, Arjan P M de Brouwer⁵, Paula Jorge^{1

2}

Affiliations

¹ Unidade de Genética Molecular Centro de Genética Médica Jacinto de Magalhães (CGM) Centro Hospitalar Universitário do Porto (CHUP) Porto Portugal.
² Unidade Multidisciplinar de Investigação Biomédica (UMIB) Instituto de Ciências Biomédicas Abel Salazar (ICBAS) Universidade do Porto Porto Portugal.
³ Unidade de Genética Médica Centro de Genética Médica Jacinto de Magalhães (CGM) Centro Hospitalar Universitário do Porto (CHUP) Porto Portugal.
⁴ Serviço de Neuropatologia Centro Hospitalar e Universitário do Porto (CHUP) Porto Portugal.
⁵ Department of Human Genetics Donders Institute for Brain, Cognition and Behaviour Radboud University Nijmegen Nijmegen The Netherlands.

Abstract

In a patient with Usher syndrome and atypical muscle complaints, we have identified two separate variants in MYO7A andNEB genes by exome sequencing. The homozygous variants in these two recessive genes could explain the full phenotype of our patient.

Keywords: MYO7A; NEB; Nebulin‐associated myopathy; Usher syndrome; homozygosity mapping.

Publication types

Case Reports