Details of Disease

General Information of Disease (ID: DISO9PZY)

• Disease Name: Obsolete hypomyelination neuropathy-arthrogryposis syndrome
• Synonyms: Boylan-dew syndrome
• Definition: OBSOLETE. Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.
• Disease Hierarchy:
  DIS01GPL: Grass pollen hypersensitivity
  DISO9PZY: Obsolete hypomyelination neuropathy-arthrogryposis syndrome

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADCY6	OTFOY4WW	Supportive	Autosomal recessive	[1]
CNTNAP1	OT5Y03EU	Supportive	Autosomal recessive	[1]
LGI4	OTZGS8BN	Supportive	Autosomal recessive	[2]

References

• [1] Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum Mol Genet. 2014 May 1;23(9):2279-89. doi: 10.1093/hmg/ddt618. Epub 2013 Dec 6.
• [2] Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita. Am J Hum Genet. 2017 Apr 6;100(4):659-665. doi: 10.1016/j.ajhg.2017.02.006. Epub 2017 Mar 16.