دورية أكاديمية
A novel FKRP-related muscular dystrophy founder mutation in South African Afrikaner patients with a phenotype suggestive of a dystrophinopathy.
| العنوان: | A novel FKRP-related muscular dystrophy founder mutation in South African Afrikaner patients with a phenotype suggestive of a dystrophinopathy. |
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| المؤلفون: | Mudau MM; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa. mabyalwamudau@gmail.com., Essop F, Krause A |
| المصدر: | South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde [S Afr Med J] 2016 Dec 21; Vol. 107 (1), pp. 80-82. Date of Electronic Publication: 2016 Dec 21. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: South African Medical Association Country of Publication: South Africa NLM ID: 0404520 Publication Model: Electronic Cited Medium: Print ISSN: 0256-9574 (Print) NLM ISO Abbreviation: S Afr Med J Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Publication: 1998- : Cape Town : South African Medical Association Original Publication: Cape Town : Medical Association of South Africa, |
| مستخلص: | Background: Fukutin-related protein (FKRP) muscular dystrophy is an autosomal recessive disorder caused by mutations in the FKRP gene. The condition is often misdiagnosed as a dystrophinopathy. A previously unreported mutation, c.1100T>C in exon 4 of FKRP, had been identified in homozygous form in two white South African (SA) Afrikaner patients clinically diagnosed with a dystrophinopathy. Objectives: To investigate whether the c.1100T>C mutation and the common European FKRP mutation c.826C>A are present in other patients of Afrikaner origin with suspected dystrophinopathy, and whether a founder haplotype exists. Methods: The c.1100T>C mutation was initially tested for using an amplification refractory mutation system technique in 45 white SA Afrikaner patients who had tested negative using multiplex ligation probe amplification screening for exonic deletions/duplications in the dystrophin gene. Sequencing analysis was used to confirm the c.1100T>C mutation and screen for the c.826C>A mutation. Two cohorts (each numbering 100) of Afrikaans and other white controls were screened for the c.1100T>C and c.826C>A mutations, respectively. Results: Of the 45 patients, 8 patients (17.8%) were homozygous for c.1100T>C, 2 (4.4%) were compound heterozygotes for c.1100T>C and c.826C>A, and 1 (2.2%) was heterozygous for c.1100T>C with a second unidentified mutation. The c.1100T>C mutation was found in 1/100 controls, but no heterozygotes for the c.826C>A mutation were identified. Linked marker analysis for c.1100T>C showed a common haplotype, suggesting a probable founder mutation in the SA Afrikaner population. Conclusion: FKRP mutations may be relatively common in Afrikaners, and screening should be considered in patients who have a suggestive phenotype and test negative for a dystrophinopathy. This test will be useful for offering diagnostic, carrier and prenatal testing for affected individuals and their families. As FKRP muscular dystrophy is autosomal recessive in inheritance, the implications of a positive diagnosis in a family differ significantly from those of an X-linked dystrophinopathy. |
| تواريخ الأحداث: | Date Created: 20170124 Latest Revision: 20220408 |
| رمز التحديث: | 20231215 |
| DOI: | 10.7196/SAMJ.2016.v107.i1.10907 |
| PMID: | 28112097 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 0256-9574 |
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| DOI: | 10.7196/SAMJ.2016.v107.i1.10907 |