Trismus-Pseudocamptodactyly Syndrome: MYH8 Sequencing
Distal Arthrogryposis type 7; Hecht syndrome
For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).
- Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
- DNA-minimum 10 ug in 100 uL low TE (pH8.0)
For details about specimen requirements, please refer to: Specimen Type and Requirements
If sample shipment >48 hours, ship on ice.
Patients with trismus-pseudocamptodactyly syndrome may show cardiac myxomas, spotty skin pigmentation alone or in combination with cutaneous lesions. Most affected individuals have distal arthrogryposis, including pseudocamptodactyly of the hands and feet, trismus, or both, which improves symptomatically with aging.
Trismus-pseudocamptodactyly syndrome is an autosomal dominant disorder caused by a deficiency of a perinatal skeletal myosin heavy chain. The syndrome is caused by mutations in the MYH8 gene which has been mapped to chromosome 17p13.1. A single mutation, p.Arg674Gln, has been described in several families of Belgian descent.
Trismus-pseudocamptodactyly syndrome is present when an individual has one copy of the defective gene. There is a 50% chance that baby will inherit the mutation for trismus-pseudocamptodactyly syndrome and thus may develop symptoms in the perinatal period. There is a 50% chance that the baby will not have trismus-pseudocamptodactyly syndrome.
See related information sheet: Trismus-pseudocamptodactyly syndrome
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