OMIM: 216550Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | VPS13A |
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| Dna Change: | EX70_EX73del (37-KB DEL) |
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| Protein Change: | |
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| Mutation Type: | Deletion |
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| Mutation Effect: | |
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| Location: | |
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| Transcript: | NM_033305.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Greece | NA | NA | 1 patient | NA | Parri V et al., 2010Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F, . High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.. Eur. J. Hum. Genet.. 2010; 18(10):1133-40 |
| Gene/Locus: | VPS13B |
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| Dna Change: | EX6-16DEL |
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| Protein Change: | |
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| Mutation Type: | Deletion |
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| Mutation Effect: | |
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| Location: | exons 6 to 16 |
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| Transcript: | NM_152564.4 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | Center and South | 3 patients | NA | Parri V et al., 2010Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F, . High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.. Eur. J. Hum. Genet.. 2010; 18(10):1133-40 |
| Gene/Locus: | VPS13B |
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| Dna Change: | c.11125delC |
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| Protein Change: | p.Leu3709SerfsX61 |
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| Mutation Type: | Deletion |
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| Mutation Effect: | Frameshift |
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| Location: | exon 58 |
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| Transcript: | NM_017890.4 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | Venetos lowland (between Padova and Tagliamento) | 3 patients /3 unrelated families | NA | Katzaki E et al., 2007Katzaki E, Pescucci C, Uliana V, Papa FT, Ariani F, Meloni I, Priolo M, Selicorni A, Milani D, Fischetto R, Celle ME, Grasso R, Dallapiccola B, Brancati F, Bordignon M, Tenconi R, Federico A, Mari F, Renieri A, Longo I, . Clinical and molecular characterization of Italian patients affected by Cohen syndrome.. J. Hum. Genet.. 2007; 52(12):1011-7 |
References
Katzaki E, Pescucci C, Uliana V, Papa FT, Ariani F, Meloni I, Priolo M, Selicorni A, Milani D, Fischetto R, Celle ME, Grasso R, Dallapiccola B, Brancati F, Bordignon M, Tenconi R, Federico A, Mari F, Renieri A, Longo I, Clinical and molecular characterization of Italian patients affected by Cohen syndrome.J. Hum. Genet.. 2007; 52(12):1011-7
Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F, High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.Eur. J. Hum. Genet.. 2010; 18(10):1133-40