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Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy
Joachim Schessl1, Wolfram Kress, Benedikt Schoser
1Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians University of Munich, Germany. joachim.schessl@med.uni-muenchen.de
Introduction:
Mutations in the anoctamin 5 gene (ANO5) have been recently identified.They cause limb girdle muscular dystrophy (LGMD2L) and Miyoshi muscular dystrophy.
Methods:
Clinical findings of four unrelated patients are reviewed. Mutation detection was performed by direct sequencing of the ANO5 exons.
Results:
We identified four novel mutations in the ANO5 gene. In one patient, a novel homozygous mutation (c.1965G>C). In three patients, the recurrent heterozygous exon 5 c.191dupA mutation is combined with other variants to form a compound heterozygous state: in two cases, novel splice site mutations in intron 5 (c.295-1G>A) and in intron 14 (c.1407+5G>A), and in one case, a novel missense mutation in exon 4 (c.172C>T).
Conclusions:
The cases reported here should help to better understand the important role of mutation screening in the ANO5 gene in patients with adult onset muscular dystrophy and very high CK levels.
Insights
Novel mutations in the anoctamin 5 (ANO5) gene were identified in patients with limb girdle muscular dystrophy (LGMD2L). This research highlights ANO5 mutation screening for adult-onset muscular dystrophy with high creatine kinase levels.
Area of Science:
- Genetics
- Molecular Biology
- Neurology
Background:
- Mutations in the anoctamin 5 (ANO5) gene are a recent discovery.
- ANO5 gene mutations are linked to limb girdle muscular dystrophy (LGMD2L) and Miyoshi muscular dystrophy.
Observation:
- This study reviewed the clinical data of four unrelated patients.
- ANO5 gene exons were analyzed using direct sequencing.
Findings:
- Four novel mutations in the ANO5 gene were identified.
- A homozygous mutation (c.1965G>C) was found in one patient.
- Three patients presented compound heterozygous states with the recurrent exon 5 c.191dupA mutation and other novel variants: splice site mutations (c.295-1G>A, c.1407+5G>A) and a missense mutation (c.172C>T).
Implications:
- These findings emphasize the importance of ANO5 gene mutation screening.
- Screening is crucial for diagnosing adult-onset muscular dystrophy, especially in cases with elevated creatine kinase (CK) levels.
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