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An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient

Duchenne muscular dystrophy (DMD) is the most common inherited muscle dystrophy. Patients are characterized by muscle weakness, gross motor delay, and elevated serum creatinine kinase (CK) levels. The disease is caused by mutations in the DMD gene located on the X chromosome. Due to the X-linked rec...

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Autores principales: Szűcs, Zsuzsanna, Pinti, Éva, Haltrich, Irén, Szén, Orsolya Pálné, Nagy, Tibor, Barta, Endre, Méhes, Gábor, Bidiga, László, Török, Olga, Ujfalusi, Anikó, Koczok, Katalin, Balogh, István
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9655586/
https://www.ncbi.nlm.nih.gov/pubmed/36361862
http://dx.doi.org/10.3390/ijms232113076
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author Szűcs, Zsuzsanna
Pinti, Éva
Haltrich, Irén
Szén, Orsolya Pálné
Nagy, Tibor
Barta, Endre
Méhes, Gábor
Bidiga, László
Török, Olga
Ujfalusi, Anikó
Koczok, Katalin
Balogh, István
author_facet Szűcs, Zsuzsanna
Pinti, Éva
Haltrich, Irén
Szén, Orsolya Pálné
Nagy, Tibor
Barta, Endre
Méhes, Gábor
Bidiga, László
Török, Olga
Ujfalusi, Anikó
Koczok, Katalin
Balogh, István
author_sort Szűcs, Zsuzsanna
collection PubMed
description Duchenne muscular dystrophy (DMD) is the most common inherited muscle dystrophy. Patients are characterized by muscle weakness, gross motor delay, and elevated serum creatinine kinase (CK) levels. The disease is caused by mutations in the DMD gene located on the X chromosome. Due to the X-linked recessive inheritance pattern, DMD most commonly affects males, who are generally diagnosed between the age of 3–5 years. Here we present an ultra-rare manifestation of DMD in a female patient. Cytogenetic examination showed that she has a t(X;10)(p21.1;p12.1) translocation, which turned out to affect the DMD gene with one of the breakpoints located in exon 54 (detected by genome sequencing). The X-inactivation test revealed skewed X-inactivation (ratio 99:1). Muscle histology and dystrophin immunohistochemistry showed severe dystrophic changes and highly reduced dystrophin expression, respectively. These results, in accordance with the clinical picture and a highly elevated serum CK, led to the diagnosis of DMD. In conclusion, although in very rare cases, DMD can manifest in female patients as well. In this case, a balanced X-autosome reciprocal translocation disrupts the DMD gene and skewed X-inactivation leads to the manifestation of the DMD phenotype.
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spelling pubmed-96555862022-11-15 An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient Szűcs, Zsuzsanna Pinti, Éva Haltrich, Irén Szén, Orsolya Pálné Nagy, Tibor Barta, Endre Méhes, Gábor Bidiga, László Török, Olga Ujfalusi, Anikó Koczok, Katalin Balogh, István Int J Mol Sci Article Duchenne muscular dystrophy (DMD) is the most common inherited muscle dystrophy. Patients are characterized by muscle weakness, gross motor delay, and elevated serum creatinine kinase (CK) levels. The disease is caused by mutations in the DMD gene located on the X chromosome. Due to the X-linked recessive inheritance pattern, DMD most commonly affects males, who are generally diagnosed between the age of 3–5 years. Here we present an ultra-rare manifestation of DMD in a female patient. Cytogenetic examination showed that she has a t(X;10)(p21.1;p12.1) translocation, which turned out to affect the DMD gene with one of the breakpoints located in exon 54 (detected by genome sequencing). The X-inactivation test revealed skewed X-inactivation (ratio 99:1). Muscle histology and dystrophin immunohistochemistry showed severe dystrophic changes and highly reduced dystrophin expression, respectively. These results, in accordance with the clinical picture and a highly elevated serum CK, led to the diagnosis of DMD. In conclusion, although in very rare cases, DMD can manifest in female patients as well. In this case, a balanced X-autosome reciprocal translocation disrupts the DMD gene and skewed X-inactivation leads to the manifestation of the DMD phenotype. MDPI 2022-10-28 /pmc/articles/PMC9655586/ /pubmed/36361862 http://dx.doi.org/10.3390/ijms232113076 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Szűcs, Zsuzsanna
Pinti, Éva
Haltrich, Irén
Szén, Orsolya Pálné
Nagy, Tibor
Barta, Endre
Méhes, Gábor
Bidiga, László
Török, Olga
Ujfalusi, Anikó
Koczok, Katalin
Balogh, István
An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient
title An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient
title_full An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient
title_fullStr An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient
title_full_unstemmed An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient
title_short An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient
title_sort ultra-rare manifestation of an x-linked recessive disorder: duchenne muscular dystrophy in a female patient
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9655586/
https://www.ncbi.nlm.nih.gov/pubmed/36361862
http://dx.doi.org/10.3390/ijms232113076
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