Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy

Abstract

Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy. The couple E.P.R., 38-year-old, symptomatic patient heterozygous for a 2 to 47 exon deletion mutation in DMD gene and G.T.S., 39-year-old, sought genetic counseling about preimplantation genetic diagnosis process. They have had a 6-year-old son who died due to Duchenne muscular dystrophy complications. The couple underwent four cycles of intracytoplasmic sperm injection (ICSI) and eight embryos biopsies were analyzed by polymerase chain reaction (PCR) for specific mutation analysis, followed by microarray-based comparative genomic hybridisation (array CGH) for aneuploidy analysis. Preimplantation genetic diagnosis revealed that two embryos had inherited the maternal DMD gene mutation, one embryo had a chromosomal alteration and five embryos were normal. One blastocyst was transferred and resulted in successful pregnancy. The other embryos remain vitrified. We concluded that embryo analysis using associated techniques of PCR and array CGH seems to be safe for embryo selection in cases of X-linked disorders, such as Duchenne muscular dystrophy.

In Vitro Fertilization Using Preimplantation Genetic Testing in a Romanian Couple Carrier of Mutations in the TTN Gene: A Case Report and Literature Review

“…Preimplantation genetic testing using karyomapping has proven its usefulness in obtaining healthy embryos and subsequent successful pregnancies in which myotonic dystrophy type I (MDI) [ 22 , 23 , 24 , 25 ], Duchenne muscular dystrophy (DMD) [ 26 , 27 ], muscular atrophy [ 28 ] are avoided. This approach has also been applied effectively for averting the consequences of other genetic events such as reciprocal translocation [ 29 ] and dynamic mutation [ 30 ].…”

Methods for Prenatal Sex Determination and Their Importance in Understanding and Prevention of Gender-Related Birth Defects

“…However since about 10% of the women carriers for the Duchenne muscular dystrophy gene are symptomatic due to the pattern of X chromosome inactivation, a preimplantation gene analysis by PCR can nowadays allow the birth of normal offspring, both male and female. However, as this can only be done when the mutation is known, it is not feasible for some of the X-linked diseases, in which sexing is still important to prevent morbidity [35].…”

>b<Avaliação de Pericitos no modelo GRMD (>i<Golden Retriever Muscular Dystrophy>/i<)>/b<

“…A insuficiência cardíaca é estabelecida como uma das principais causas mortis nos animais GRMD, assim como em humanos (YUGETA et al, 2006;KANE et al, 2013;MORAES et al, 2017 Nestin (HELLSTRÖM et al, 1999;BIRBRAIR et al, 2013a;PALMIERI et al, 2013). Figura 3 F).…”

“…Nestin (BIRBRAIR et al, 2013a;KLIMCZAK; KOZLOWSKA; KURPISZ, 2018). outras células musculares, e não existe um marcador específico de pericito único e abrangente no músculo esquelético(BIRBRAIR et al, 2013b;PAN;CHANG;LIN, 2014;CRAGGS et al, 2015; CAMPS et al, 2019;GERLI et al, 2019). GRMD, com idades entre 1 a 9 anos, pertencentes ao banco de amostras do laboratório de Histologia do setor de Anatomia Veterinária, Universidade de São Paulo.…”