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 |
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