Heimler syndrome 1
OMIM:234580Mode of inheritance:Autosomal recessive
Disease classification:Not elsewhere classified
Mutations
| Gene Symbol | PEX1 |
|---|---|
| Reference transcript | NM_000466.2 |
| DNA Change | c.3750G>A |
| A.A. Change | p.Trp1250* |
| Exon/Intron | exon 23 |
| Mutation Type | substitution |
| Reference | Ratbi I, Falkenberg KD, Sommen M, Al-Sheqaih N, Guaoua S, Vandeweyer G, Urquhart JE, Chandler KE, Williams SG, Roberts NA, El Alloussi M, Black GC, Ferdinandusse S, Ramdi H, Heimler A, Fryer A, Lynch SA, Cooper N, Ong KR, Smith CE, Inglehearn CF, Mighell AJ, Elcock C, Poulter JA, Tischkowitz M, Davies SJ, Sefiani A, Mironov AA, Newman WG, Waterham HR, Van Camp G.
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. Am J Hum Genet. 2015 Oct 1;97(4):535-45. doi: 10.1016/j.ajhg.2015.08.011. Epub 2015 Sep 17. |