OMIM: 602296Inheritance: Autosomal recessive
Classification: Diseases of the nervous system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | AP4M1 |
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| Dna Change: | c.1137+1G>T |
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| Protein Change: | |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Splice site |
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| Location: | intron 14 |
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| Transcript: | NM_004722.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Algeria | NA | NA | 2 patients /1 family | NA | Langouët M et al., 2015Langouët M, Siquier-Pernet K, Sanquer S, Bole-Feysot C, Nitschke P, Boddaert N, Munnich A, Mancini GM, Barouki R, Amiel J, Colleaux L, . Contiguous mutation syndrome in the era of high-throughput sequencing.. Mol Genet Genomic Med. 2015; 3(3):215-20 |
| Morocco | NA | NA | 2 patients /1 family | NA | Langouët M et al., 2015Langouët M, Siquier-Pernet K, Sanquer S, Bole-Feysot C, Nitschke P, Boddaert N, Munnich A, Mancini GM, Barouki R, Amiel J, Colleaux L, . Contiguous mutation syndrome in the era of high-throughput sequencing.. Mol Genet Genomic Med. 2015; 3(3):215-20 |
References
Langouët M, Siquier-Pernet K, Sanquer S, Bole-Feysot C, Nitschke P, Boddaert N, Munnich A, Mancini GM, Barouki R, Amiel J, Colleaux L, Contiguous mutation syndrome in the era of high-throughput sequencing.Mol Genet Genomic Med. 2015; 3(3):215-20