MOLECULAR STUDY WALKER-WARBURG SYNDROME (POMT1) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3871

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	50 days
Information:
Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities. Patients present at birth with generalized severe hypotonia, muscle weakness, absent or very poor psychomotor development, eye involvement, seizures and brain abnormalities. WWS represents the most severe phenotype of the so-called dystroglycanopathies. Transmission is autosomal recessive. Several genes have been implicated in the etiology of WWS, and others are as yet unknown. Most mutations were found in POMT1 and POMT2 genes. Other genes were found to be mutated in WWS cases (FKTN, LARGE, FKRP and POMGNT1). Laboratory investigations usually show elevated creatine kinase, myopathic/dystrophic muscle pathology with altered alpha-dystroglycan expression. WWS is the most severe form of congenital muscular dystrophy with most children dying before the age of three years.
Links:
OMIM Entry - #236670 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1
Orphanet- Walker Warburg syndrome
OMIM Entry - -607423 - PROTEIN O-MANNOSYLTRANSFERASE 1; POMT1

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