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GENATLAS PHENOTYPE

last update : 20-10-2015

Symbol	HSN2C
Location	2q37.3
Name	neuropathy, hereditary sensory, type IIC
Corresponding gene	KIF1A
Other symbol(s)	HSNII
Main clinical features	peripheral nerve degeneration resulting in a severe distal sensory loss onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes, and also develop distal muscle weakness, primarily affecting the lower limbs more severe disorder with panmodal sensory loss and additional features, including low IQ, slowed speech development, short stature, equinus deformities
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Gene product

Name	axonal transporter of synaptic vesicles, interacting with the domain encoded by the HSN2 exon

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
abnormal splicing		truncated protein	almost exclusively restricted to an alternatively spliced exon

Remark(s)