Mosaicism in carrier of Duchenne muscular dystrophy mutation – Implication for prenatal diagnosis
| Autor: | Van Khanh Tran, Tuan Pham Le-Anh, Long Hoang Luong, Dat Quoc Tran, Thanh Van Ta, Thinh Huy Tran, The-Hung Bui, Linh Thuy Dinh, Phuong Thi Le, Duc Hinh Nguyen |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
musculoskeletal diseases
0301 basic medicine Proband Heterozygote congenital hereditary and neonatal diseases and abnormalities Duchenne muscular dystrophy DNA Mutational Analysis Prenatal diagnosis Carrier testing lcsh:Gynecology and obstetrics 03 medical and health sciences 0302 clinical medicine Pregnancy Prenatal Diagnosis Obligate carrier Humans Medicine Child lcsh:RG1-991 Genetics biology Mosaicism business.industry Obstetrics and Gynecology medicine.disease Pedigree Muscular Dystrophy Duchenne 030104 developmental biology Mutation (genetic algorithm) Mutation testing biology.protein Female business Dystrophin 030217 neurology & neurosurgery |
| Zdroj: | Taiwanese Journal of Obstetrics & Gynecology, Vol 57, Iss 6, Pp 878-880 (2018) |
| ISSN: | 1028-4559 |
| DOI: | 10.1016/j.tjog.2018.10.019 |
| Popis: | Objective: Duchenne muscular dystrophy (DMD) is a severe disorder caused by mutation in the X-linked dystrophin gene, therefor carrier testing is required for all female family members. However, there are cases mutation analysis cannot detect any mutation due to a phenomenon called mosaicism. The case report describes a case of mosaicism in a DMD carrier and discusses the approach in diagnosis and counseling of familial disorder. Case report: The proband was diagnosed with DMD at age six. Sequencing of Dystrophin gene identified a 2-nucleotide deletion c.2032_2033delCA, p.Q678DfsX41. Family investigation suggested that the mother was an obligate carrier of Dystrophin mutation. Sequencing of DNA sample from the mother's peripheral blood did not reveal any mutation, there for we take sample from hair follicle for analysis. The result indicated that the mother was a carrier but was masked from initial analysis by mosaicsism. Conclusion: We suggested that more care need to be taken in identifying cases when no mutation was detected in probable or obligate carrier and prenatal diagnosis should remain an option. Keywords: Duchenne muscular dystrophy, Dystrophin, Mosaicism, Counseling, Prenatal diagnosis |
| Databáze: | OpenAIRE |
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