Multiple pterygium syndrome, Escobar variant and related disorders panel

Multiple pterygium syndrome, Escobar variant and related disorders panel

[15 genes]

TOURNAROUND TIME: 6 WEEKS

ADCY6 ADGRG6 CNTNAP1 CHRNA1
CHRNB1 CHRND CHRNG DOK7
GLDN GLE1 MUSK MYBPC1
PIEZO2 RAPSN ZBTB42

Arthrogryposis, or arthrogryposis multiplex congenita (AMC), is characterized by the presence of non-progressive multiple joint contractures in different areas of the body present from birth.

It is estimated that up to 1% of newborns are born with some type of congenital contracture, although the prevalence of arthrogryposis is estimated in 1/3 000 live births (Lowry et al., 2010). Approximately two thirds of affected individuals can be diagnosed by the age of two, and great progress is being made in the identification of specific genetic and non-genetic causes of arthrogryposis (Hall et al., 2014). It has been estimated that a genetic cause can be identified in approximately 30% of cases (Dimitraki et al., 2011).

There are different forms that should be considered when selecting the genetic study:

  • Amyoplasia or “classic arthrogryposis” accounts for one third of cases, with a prevalence of 1/10 000 live births. They are sporadic cases with all four limbs affected, unaffected trunk, and no multisystem involvement. They usually do not have a genetic cause, and their etiology is due to maternal-fetal factors in pregnancy. However, some forms can clinically resemble distal forms of arthrogryposis. Therefore, prior to a genetic study request, cases must be carefully selected based on clinical suspicion and potential differential diagnoses
  • Those individuals with associated CNS involvement (malformations, intellectual disability, or other developmental disorders) or dysmorphic features require an assessment involving chromosomal and gene dosage studies (karyotype, SNP-arrays, etc.).
  • Targeted genetic studies are more adequate and have a higher yield for distal arthrogryposis and multiple pterygium-associated conditions, for which we have developed specific panels
  • It is worth noting that up to 5% of arthrogryposis cases are secondary to myopathies and congenital myasthenic syndromes (Darras et al., 2015), which are targeted by the arthrogryposis comprehensive panel
REFERENCES
  1. Dimitraki M, Tsikouras P, Bouchlariotou S, Dafopoulos A, Konstantou E, Liberis V. Prenatal assessment of arthrogryposis. A review of the literature. J Matern Fetal Neonatal Med. 2011 Jan;24(1):32-6.
  2. Hall JG. Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles. Eur J Med Genet. 2014 Aug;57(8):464-72.
  3. Lowry RB, Sibbald B, Bedard T, Hall JG. Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding. Birth Defects Res A Clin Mol Teratol. 2010 Dec;88(12):1057-61.

 

NEUROLOGY PORTFOLIO


STUDY REQUEST
Select the panel you wish to request


INFORMED CONSENT
Required document in order to perform the study


VARIANT CLASSIFICATION
Variant classification and clinical usefulness criteria

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