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ETHE1, 1-BP INS, 221A AND Ethylmalonic encephalopathy

Significance: Pathogenic
ClinVar: RCV000002410

Variant: ETHE1, 1-BP INS, 221A

Type: Variant
Allele: ETHE1, 1-BP INS, 221A 17359
Gene:
Type: Insertion
References: OMIM: 608451.0004

Condition

Disease: Ethylmalonic encephalopathy

Citation

    In a patient with ethylmalonic encephalopathy (EE; 602473) from a nonconsanguineous family, Tiranti et al. (2004) found compound heterozygosity for a 1-bp insertion (221_222insA) in exon 2 of the ETHE1 gene, resulting in a tyr74-to-ter (Y74X) change, and an 11-bp deletion (440del11; 608451.0005) in exon 4 of the ETHE1 gene, resulting in a frameshift and premature termination. The same 1-bp insertion was found in homozygous state in another patient.
PMID:14732903