Proband information


Proband id 1266
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 240 chromosomes tested and not found in 240 chromosomes
Detection PCR/diagnostic restriction
Extent Part of exon 4
Source of DNA Not known
Carrier Y
Carrier result Mother I-1 is carrier. For details of additional relatives, see data in I-1
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Familial
Phenotype-class Not Rett synd.-X-linked mental retardation
Reference 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

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 :::