Inherited Peripheral Neuropathies

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IPN Mutations

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last updated 17-Feb-11

Mutations in GJB1 (Cx32)

Name	GJB1 deletion
Alias	Deletion of complete coding region
Description	Deletion of complete coding region
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Ainsworth et al., 1998 Lin et al., 1999 Takashima et al., 2003 References		Genomic	cDNA	Protein
	Observed	Deletion of complete coding region
	Deduced		Deletion of complete coding region
	Region
	Date Added: 01-May-99		ID: 277

Mutations in PMP22

Name	c.214T>C
Alias	Ser72Pro
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TCG to CCG
Phenotype	DSS
htz/hmz	htz
Family History	-

Ainsworth et al., 1998 Ekici et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.214T>C
	Deduced		c.214T>C	S72P
	Region	EX4	CDS	TM2
	Date Added: 01-May-99		ID: 13

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