Proband information
Proband id | 4403 |
---|---|
Systematic Name (NM_004992.3:) |
c.419C>T |
Protein name (NP_004983) |
p.Ala140Val |
Alternate systematic Name (NM_001110792.1:) |
c.455C>T |
Alternate Protein name (NP_001104262) |
p.(Ala152Val) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296860G>A |
Mutation type | missense |
Domain | MBD |
Pathogenicity | Unknown |
Evidence of Pathogenicity | 100 chromosomes tested and not found in 100 chromosomes |
Detection | DGGE |
Extent | exons 2-4 |
Source of DNA | |
Carrier | Y |
Carrier result | segregates in family with XLMR |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | |
Phenotype-class | Not Rett synd.-unaffected family member |
Reference | Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening?:Winnepenninckx, B., Errijgers, V., Hayez-Delatte, F., Reyniers, E., Kooy, R.F.:Human Mutation: 12325019 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.419C>T | p.Ala140Val | Female | Mentally retarded daughter and 4 mentally retarded sons have variation | Not Rett synd. | 218 | MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980 |
2 | c.419C>T | p.Ala140Val | Female | Mentally retarded mother X309 and 4 mentally retarded brothers have variation | Not Rett synd. | 219 | MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980 |
3 | c.419C>T | p.Ala140Val | Male | Mentally retarded mother X309, mentally retarded sister and 3 mentally retarded brothers have variation | Not Rett synd. | 220 | MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980 |
4 | c.419C>T | p.Ala140Val | Male | Mentally retarded mother X309, mentally retarded sister and 3 mentally retarded brothers have variation | Not Rett synd. | 221 | MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980 |
5 | c.419C>T | p.Ala140Val | Male | Mentally retarded mother X309, mentally retarded sister and 3 mentally retarded brothers have variation | Not Rett synd. | 222 | MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980 |
6 | c.419C>T | p.Ala140Val | Male | Mentally retarded mother X309, mentally retarded sister and 3 mentally retarded brothers have variation | Not Rett synd. | 223 | MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980 |
7 | c.419C>T | p.Ala140Val | Male | Unaffected mother is carrier | Not Rett synd. | 1014 | MECP2 is highly mutated in X-linked mental retardation:Couvert, Philippe, Bienvenu, Thierry, Aquaviva, Cecile, Poirier, Karine, Moraine, Claude, Gendrot, Chantal, Verloes, Alain, Andrès, Christian, Le Fevre, Anne Celine, Souville, Isabelle, Steffann, Julie, des Portes, Vincent, Ropers, Hans-Hilger, Yntema, Helger G., Fryns, Jean-Pierre, Briault, Sylvain, Chelly, Jamel and Cherif, Beldjord:Human Molecular Genetics: 11309367 |
8 | c.419C>T | p.Ala140Val | Male | Unaffected mother is carrier | Not Rett synd. | 1015 | MECP2 is highly mutated in X-linked mental retardation:Couvert, Philippe, Bienvenu, Thierry, Aquaviva, Cecile, Poirier, Karine, Moraine, Claude, Gendrot, Chantal, Verloes, Alain, Andrès, Christian, Le Fevre, Anne Celine, Souville, Isabelle, Steffann, Julie, des Portes, Vincent, Ropers, Hans-Hilger, Yntema, Helger G., Fryns, Jean-Pierre, Briault, Sylvain, Chelly, Jamel and Cherif, Beldjord:Human Molecular Genetics: 11309367 |
9 | c.419C>T | p.Ala140Val | Female | Son with mental retardation II-2 has mutation, unaffected carrier daughter II-3 has mutation, grandson III-1 (son of II-3 and II-4) has mental retardation and manic-depressive illness and has mutation, son with mental retardation and manic-depressive illness II-6 has mutation, unaffected carrier daughter II-11 is obligate carrier, grandson III-7 (son of II-10 and II-11) has mental retardation and has mutation, grandson III-8 (son of II-10 and II-11) is unaffected and does not have mutation, unaffected daughter II-13 does not have mutation, unaffected son II-17 does not have mutation, unaffected carrier daughter II-19 has mutation, unaffected grandson III-19 (son of II-18 and II-19) does not have mutation, grandson III-20 has mental retardation, manic-depressive illness and has mutation | Not Rett synd. | 1265 | A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome:Klauck, Sabine M., Lindsay, Susan, Beyer, Kim S., Splitt, Miranda, Burn, John, and Poustka, Annemarie:American Journal of Human Genetics: 11885030 |
10 | c.419C>T | p.Ala140Val | Male | Mother I-1 is carrier. For details of additional relatives, see data in I-1 | Not Rett synd. | 1266 | A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome:Klauck, Sabine M., Lindsay, Susan, Beyer, Kim S., Splitt, Miranda, Burn, John, and Poustka, Annemarie:American Journal of Human Genetics: 11885030 |
11 | c.419C>T | p.Ala140Val | Female | Mother I-1 is carrier. For details of additional relatives, see data in I-1 | Not Rett synd. | 1267 | A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome:Klauck, Sabine M., Lindsay, Susan, Beyer, Kim S., Splitt, Miranda, Burn, John, and Poustka, Annemarie:American Journal of Human Genetics: 11885030 |
12 | c.419C>T | p.Ala140Val | Male | Mother II-3 is carrier. For details of additional relatives, see data in I-1 | Not Rett synd. | 1268 | A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome:Klauck, Sabine M., Lindsay, Susan, Beyer, Kim S., Splitt, Miranda, Burn, John, and Poustka, Annemarie:American Journal of Human Genetics: 11885030 |
13 | c.419C>T | p.Ala140Val | Male | Mother I-1 is carrier. For details of additional relatives, see data in I-1 | Not Rett synd. | 1269 | A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome:Klauck, Sabine M., Lindsay, Susan, Beyer, Kim S., Splitt, Miranda, Burn, John, and Poustka, Annemarie:American Journal of Human Genetics: 11885030 |
14 | c.419C>T | p.Ala140Val | Male | Mother II-11 is carrier. For details of additional relatives, see data in I-1 | Not Rett synd. | 1270 | A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome:Klauck, Sabine M., Lindsay, Susan, Beyer, Kim S., Splitt, Miranda, Burn, John, and Poustka, Annemarie:American Journal of Human Genetics: 11885030 |
15 | c.419C>T | p.Ala140Val | Female | Mother I-1 is carrier. For details of additional relatives, see data in I-1 | Not Rett synd. | 1271 | A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome:Klauck, Sabine M., Lindsay, Susan, Beyer, Kim S., Splitt, Miranda, Burn, John, and Poustka, Annemarie:American Journal of Human Genetics: 11885030 |
16 | c.419C>T | p.Ala140Val | Male | Mother II-19 is carrier. For details of additional relatives, see data in I-1 | Not Rett synd. | 1272 | A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome:Klauck, Sabine M., Lindsay, Susan, Beyer, Kim S., Splitt, Miranda, Burn, John, and Poustka, Annemarie:American Journal of Human Genetics: 11885030 |
17 | c.419C>T | p.Ala140Val | Male | Unaffected mother has variation | Not Rett synd. | 1966 | MECP2 mutation in a boy with language disorder and schizophrenia:Cohen, David, Lazar, Gabriela, Couvert, Philippe, Desportes, Vincent, Lippe, Didier, Mazet, Philippe, Héron, Delphine:American Journal of Psychiatry: 11772708 |
18 | c.419C>T | p.Ala140Val | Female | Relative of proband | Not Rett synd. | 1967 | MECP2 mutation in a boy with language disorder and schizophrenia:Cohen, David, Lazar, Gabriela, Couvert, Philippe, Desportes, Vincent, Lippe, Didier, Mazet, Philippe, Héron, Delphine:American Journal of Psychiatry: 11772708 |
19 | c.419C>T | p.Ala140Val | Female | mother negative, father (potentially similar disorder) not tested | Not Rett synd. | 5302 | Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation:Venkateswaran, S., McMillan, H.J., Doja, A., Humphreys, P.:Developmental Medicine & Child Neurology: 24328834 |
20 | c.419C>T | p.Ala140Val | Female | Not Rett synd. | 4093 | Methyl-CpG binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation:Parmeggiani, A., Tedde, M.R., Arbizzani, A., Posar, A., Scaduto, M.C., Santucci, M., Sangiorgi, S.:Journal of Child Neurology: 19189931 | |
21 | c.419C>T | p.Ala140Val | Male | segregates in family with XLMR | Not Rett synd. | 4398 | Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening?:Winnepenninckx, B., Errijgers, V., Hayez-Delatte, F., Reyniers, E., Kooy, R.F.:Human Mutation: 12325019 |
22 | c.419C>T | p.Ala140Val | Male | segregates in family with XLMR | Not Rett synd. | 4399 | Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening?:Winnepenninckx, B., Errijgers, V., Hayez-Delatte, F., Reyniers, E., Kooy, R.F.:Human Mutation: 12325019 |
23 | c.419C>T | p.Ala140Val | Male | segregates in family with XLMR | Not Rett synd. | 4400 | Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening?:Winnepenninckx, B., Errijgers, V., Hayez-Delatte, F., Reyniers, E., Kooy, R.F.:Human Mutation: 12325019 |
24 | c.419C>T | p.Ala140Val | Male | segregates in family with XLMR | Not Rett synd. | 4401 | Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening?:Winnepenninckx, B., Errijgers, V., Hayez-Delatte, F., Reyniers, E., Kooy, R.F.:Human Mutation: 12325019 |
25 | c.419C>T | p.Ala140Val | Female | segregates in family with XLMR | Not Rett synd. | 4402 | Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening?:Winnepenninckx, B., Errijgers, V., Hayez-Delatte, F., Reyniers, E., Kooy, R.F.:Human Mutation: 12325019 |
26 | c.419C>T | p.Ala140Val | Female | segregates in family with XLMR | Not Rett synd. | 4403 | Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening?:Winnepenninckx, B., Errijgers, V., Hayez-Delatte, F., Reyniers, E., Kooy, R.F.:Human Mutation: 12325019 |
27 | c.419C>T | p.Ala140Val | Female | segregates in family with XLMR | Not Rett synd. | 4404 | Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening?:Winnepenninckx, B., Errijgers, V., Hayez-Delatte, F., Reyniers, E., Kooy, R.F.:Human Mutation: 12325019 |
28 | c.419C>T | p.Ala140Val | Female | segregates in family with XLMR | Not Rett synd. | 4405 | Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening?:Winnepenninckx, B., Errijgers, V., Hayez-Delatte, F., Reyniers, E., Kooy, R.F.:Human Mutation: 12325019 |
29 | c.419C>T | p.Ala140Val | Male | Not Rett synd. | 6913 | ::: |