Publication date: Available online 1 July 2017
Source:Brain and Development
Author(s): Mawaddah Ar Rochmah, Hiroyuki Awano, Tomonari Awaya, Nur Imma Fatimah Harahap, Naoya Morisada, Yoshihiro Bouike, Toshio Saito, Yuji Kubo, Kayoko Saito, Poh San Lai, Ichiro Morioka, Kazumoto Iijima, Hisahide Nishio, Masakazu Shinohara
BackgroundSpinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder. Over 95% of SMA patients have homozygous deletions of the SMA-causative gene, SMN1. Thus, SMA carriers are usually diagnosed based on SMN1 copy number, with one copy indicating SMA carrier status. However, two SMN1 copies do not always exclude carrier status. In this study, we identified SMA carriers with two SMN1 copies.Subjects and methodsFrom 33 families, 65 parents of genetically confirmed SMA patients were tested to determine SMA carrier status. Molecular genetic analyses, including multiplex ligation-dependent probe amplification (MLPA) assay, were performed using blood samples from family members.ResultsOf the 65 parents, three parents from three families had two SMN1 copies. Accordingly, the frequency of carriers with two SMN1 copies was 4.6%. Two of these families were further studied. Patient 1 was homozygous for SMN1 deletion. Patient 1's mother had two SMN1 copies on one chromosome, with deletion of SMN1 on the other chromosome ([2+0] genotype). Patient 1 inherited SMN1-deleted chromosomes from both parents. Patient 2 was compound heterozygous for two SMN1 mutations: whole-gene deletion and intragenic missense mutation, c.826T>C (p.Tyr276His). Patient 2's father had two SMN1 copies with the same intragenic mutation in one copy ([1+1d] genotype, d intragenic mutation). Patient 2 inherited the chromosome with an SMN1 mutation from the father and SMN1-deleted chromosome from the mother.ConclusionSMA carriers with two SMN1 copies may be rare, but its possibility should be taken into consideration in carrier testing and counseling for SMA families or population-based carrier screening.
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Σφακιανάκης Αλέξανδρος
ΩτοΡινοΛαρυγγολόγος
Αναπαύσεως 5 Άγιος Νικόλαος
Κρήτη 72100
00302841026182
00306932607174
alsfakia@gmail.com
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- Epinephrine use for anaphylaxis: Too seldom, too late
- Effects of allergen sensitization on response to t...
- Epinephrine use for anaphylaxis: Too seldom, too late
- Effects of allergen sensitization on response to t...
- Chinese versus English: Insights on Cognition duri...
- On the role of classical and novel forms of vitami...
- Vitamin D-deficiency and sex-specific dysregulatio...
- Small molecules to the rescue: Inhibition of cytok...
- Serum cytokine profile in pediatric Sweet’s syndro...
- Copyright
- Contributors
- Contents
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- Kinase Inhibitors in the Treatment of Myeloid Mali...
- The Treatment of Myeloid Malignancies with Kinase ...
- Tyrosine Kinase Inhibitor Treatment for Newly Diag...
- Mechanisms of Resistance to ABL Kinase Inhibition ...
- Tyrosine Kinase Inhibitors in the Treatment of Eos...
- Muscle synergies reveal impaired trunk muscle coor...
- Serum cytokine profile in pediatric Sweet’s syndro...
- Table of Contents
- Guidelines for Contributing Authors
- Editorial Board
- Trends in prescribing behavior of systemic agents ...
- Anatomic mapping and clinicopathologic analysis of...
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- Intracranial complications of CSOM in pediatric pa...
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- Residents and Program Director Perspectives Often ...
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- Down-regulated microRNA-375 expression as a predic...
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- Translocator protein (18 kDa): an update on its fu...
- Diffusion-weighted MRI in image-guided adaptive br...
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- A hyaluronic acid-based microneedle patch to treat...
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- Hidradenitis Suppurativa and electrocardiographic ...
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- Peak inspiratory flow as predictor for tracheotomy
- A pigmented lesion of the nasopharynx
- Oral shedding of human herpesviruses in renal tran...
- Effect of root canal preparation techniques on chl...
- Editors / Publication Information
- Cultural Competency Training in Emergency Medicine
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