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GENATLAS PHENOTYPE

last update : 12-11-2020

Symbol	PNDC
Location	15q26.1
Name	neuronal degeneration of childhood with liver disease, progressive
Other name(s)	Alpers-Huttenlocher syndrome Alpers progressive infantile poliodystrophy Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
Corresponding gene	POLG
Main clinical features	developmental mitochondrial DNA depletion syndrome leading to fatal brain and liver disease in children and young adults characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, feeding difficulties, variable forms of infantile epilepsy or psychomotor developmental delay and hypotonia deficiencies of respiratory chain enzyme complexes I and III, in combination with complex II, complex IV
Genetic determination	autosomal recessive
Function/system disorder	neurology
	digestive tract/liver and annex
Type	disease

Gene product

Name	polymerase (DNA directed), gamma

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
unknown		truncated protein	homozygous mutation in exon 17 that led to a Glu873Stop mutation just upstream of the polymerase domain

Remark(s)