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Custom Limb Girdle Muscular Dystrophy Panel

Custom Limb Girdle Muscular Dystrophy Panel

What is limb-girdle muscular dystrophy?

Limb-girdle muscular dystrophy (LGMD) is a set of disorders that cause weakness in the shoulder girdle and pelvic girdle. LGMD is progressive and can be categorized into different subtypes by gene and inheritance. At least 20 different types of LGMD have been identified, and most forms of LGMD are inherited in an autosomal recessive manner; whereas several rare forms are inherited in an autosomal dominant pattern. Autosomal dominant LGMD, or LGMD1 has been recognized nine subtypes (LGMD1A-I) which occur less frequently comparatively. LGMD1 progresses at a slower rate and has variable symptoms. Each gene mutation can cause several different groups of symptoms. About 90% of LGMD are autosomal recessive LGMD, or LGMD2, and there are 26 subtypes (LGMDA-Z), characterized by progressive weakness of muscles of legs, arms, shoulders and pelvic girdle. As a genetic disorder, genetic alterations have been determined by the combination of genes for particular trait.

Disease-related gene description

There have been discovered 35 genes associated to different subtypes so for. Less than 10% of all LGMD cases are diagnosed as LGMD1 and are related to particular cases of mutations in genes that may be also involved in other disorders, such as caveolin 3, myotilin, or lamin A/C. Lamin A/C (LMNA) gene locates on chr.1q22, and gives rise to at least three isoforms (lamin A, C, lamin A△10). Two main isoform lamin A and C are component of the fibrous nuclear lamina and play different roles in cell activities, including mechanical nuclear membrane maintenance and gene regulation. The LGMD1B is related to heterozygous truncating mutations of LMNA, which lead to a loss of function. On the other hand, the missense mutations of LMNA gene in Emery-Dreifuss muscular dystrophy (EDMD) cause dominant-negative or toxic gain-of-function progress. The most frequent LGMD worldwide is LGMD2A, which is caused by Calpain 3 (CAPN3) gene mutations. CAPN3 encodes a muscle-specific member of the calpain large subunit family that binds to titin. Calpains are intracellular nonlysosomal cysteine proteases and can modify target proteins' properties by cleaving them. What's more, there have been more than 300 mutations in CAPN3 identified in LGMD2A cases. Similar to LMNA and CAPN3 in LGMD1B and LGMD2A, respectively, at least one gene mutation has been shown related to each subtype of LGMD, such as DNAJB6 mutations in LGMD1D, DES mutations in LGMD1E, and so forth.

To have better acknowledgement of relationship between gene mutations and different types LGMD, our platform provides targeted DNA sequencing by the Illumina MiSeq or Ion PGM system, and a comprehensive LGMD panel library. Panel genes can be customized as your research requires for genetic testing of LGMD.

Custom limb girdle muscular dystrophy panel offers but are not limited to:

  • Amplicon sequencing by Illumina MiSeq/Ion PGM system helps detect low frequency variants by unparalleled coverage uniformity.
  • Only detect LGMD-related genes you are interested in, saving your time and cost.
  • Further validation is applied to ensure the validity of results.
  • Strict quality control guarantees the accuracy and repeatability of the sequencing.
  • Custom panel content is curated based on latest available literature about LGMD.
  • The panel content can be chosen from our LGMD library or designed by your custom requirements.

Choose the genes that suit you from the limb girdle muscular dystrophy gene list

ANO5 BVES CAPN CAPN3 CAV3
COL6A DAG1 DES DNAJB6 DYSF
FKRP FKTN GAA GMPPB HNRPDL
ISPD LAMA2 LIMS2 LMNA MYOT
PLEC1 POGLUT1 POMGNT1 POMT1 POMT2
SGCA SGCB SGCD SGCG TCAP
TOR1AIP1 TPNO3 TRAPPC11 TRIM32 TTN

Specimen requirements of our custom limb girdle muscular dystrophy panel

  • Specimen: whole blood, saliva, buccal or extracted DNA (not FFPE-compatible).
  • Volume: 8 mL whole blood, 2 mL saliva or min. 1 μg DNA.
  • Collection: blood is collected by routine blood collection and saliva is collected by spitting into the provided container. DNA samples are stored in TE buffer or equivalent.
  • Container: lavender-top (EDTA) tube or yellow-top (ACD) tube.

Gene panel workflow

Gene panel workflow

For more information about the Custom Limb Girdle Muscular Dystrophy Panel or need other amplification requirements, please contact us.

References:

  1. Nigro V. and Savarese M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myologica, 2014; XXXIII: p. 1-12.
  2. Angelini C., et al. An update on diagnostic options and considerations in limb-girdle dystrophies. Expert Review of Neurotherapeutics, 2018, 18:9, 693-703.
  3. Vissing J. Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies. Current Opinion in Neurology, 2016 Oct;29(5):635-41.
  4. Wicklund M.P. and Kissel J.T. The Limb-Girdle Muscular Dystrophies. Neurologic Clinics, 32(2014): 729-749.
* For Research Use Only. Not for use in diagnostic procedures.

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