Did you know ? If you order before Friday 14h we deliver 90PCT of the the time next Tuesday, GENTAUR another in time delivery

Pubmed ID :21376300
Publication Date : //

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.


Little is known about the genetics of nonsyndromic intellectual disability (NSID). We hypothesized that de novo mutations (DNMs) in synaptic genes explain an important fraction of sporadic NSID cases. In order to investigate this possibility, we sequenced 197 genes encoding glutamate receptors and a large subset of their known interacting proteins in 95 sporadic cases of NSID. We found 11 DNMs, including ten potentially deleterious mutations (three nonsense, two splicing, one frameshift, four missense) and one neutral mutation (silent) in eight different genes. Calculation of point-substitution DNM rates per functional and neutral site showed significant excess of functional DNMs compared to neutral ones. De novo truncating and/or splicing mutations in SYNGAP1, STXBP1, and SHANK3 were found in six patients and are likely to be pathogenic. De novo missense mutations were found in KIF1A, GRIN1, CACNG2, and EPB41L1. Functional studies showed that all these missense mutations affect protein function in cell culture systems, suggesting that they may be pathogenic. Sequencing these four genes in 50 additional sporadic cases of NSID identified a second DNM in GRIN1 (c.1679_1681dup/p.Ser560dup). This mutation also affects protein function, consistent with structural predictions. None of these mutations or any other DNMs were identified in these genes in 285 healthy controls. This study highlights the importance of the glutamate receptor complexes in NSID and further supports the role of DNMs in this disorder.

Authors : Hamdan Fadi F , Gauthier Julie , Araki Yoichi , Lin Da-Ting , Yoshizawa Yuhki , Higashi Kyohei , Park A-Reum , Spiegelman Dan , Dobrzeniecka Sylvia , Piton Amélie , Tomitori Hideyuki , Daoud Hussein , Massicotte Christine , Henrion Edouard , Diallo Ousmane , , Shekarabi Masoud , Marineau Claude , Shevell Michael , Maranda Bruno , Mitchell Grant , Nadeau Amélie , D'Anjou Guy , Vanasse Michel , Srour Myriam , Lafrenière Ronald G , Drapeau Pierre , Lacaille Jean Claude , Kim Eunjoon , Lee Jae-Ran , Igarashi Kazuei , Huganir Richard L , Rouleau Guy A , Michaud Jacques L ,

Related products :

Catalog number Product name Quantity
30-864 CCDC50 is a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 0.05 mg
27-671 MEOX2 is a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. MEOX2 may play a role in the regulation of vertebrate limb myogenesis. Mutations in the relate 0.1 mg
27-783 Mutations in PHKG2 along with PHKA2 and PHKB, all three different genes of phosphorylase kinase (Phk) subunits, can give rise to glycogen storage disease of the liver. The autosomal-recessive, liver-s 0.05 mg
28-226 Mutations in nAChRs are found in a rare form of nocturnal frontal lobe epilepsy . Previously, some nAChR mutations have been described that are associated with additional neurological features such as 0.1 mg
28-714 Mutations in nAChRs are found in a rare form of nocturnal frontal lobe epilepsy . Previously, some nAChR mutations have been described that are associated with additional neurological features such as 0.1 mg
PR-727 PC4_mt (serine mutations) Positive Cofactor 4, serine mutations, Transcriptional Coactivator human, recombinant, E. coli 10µg
PR-727 PC4_mt (serine mutations) Positive Cofactor 4, serine mutations, Transcriptional Coactivator human, recombinant, E. coli 10 µg
PR-727 Proteins: PC4-mt (serine mutations) Positive Cofactor 4, serine mutations, Transcriptional Coactivatorhuman, recombinant, E. coli 10
PR-727 PC4-mt (serine mutations) Positive Cofactor 4, serine mutations, Transcriptional Coactivator human, recombinant, E. coli 10
26-433 A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. BAT5 0.05 mg
PR-727 PC4-mt (serine mutations) Positive Cofactor 4, serine mutations, Transcriptional Coactivatorhuman, recombinant, E. coli 10
DFNY1 DFNM1 Gene deafness (recessive, nonsyndromic) modifier 1
27-120 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in mo 0.05 mg
27-462 BARHL2 and BARHL1 are two homeobox genes in mouse and human, which are highly related to the Bar Drosophila genes. 0.05 mg
26-249 BARHL2 and BARHL1 are two homeobox genes in mouse and human, which are highly related to the Bar Drosophila genes. 0.05 mg
SRP0038 This plate consists of 80 siRNAs targeting human Kinase genes (Mouse homolog 75 genes). 1 Plate
SRP0001 This plate consists of 80 siRNAs targeting human Ion Binding genes (Mouse homolog 72 genes). 1 Plate
SRP0002 This plate consists of 80 siRNAs targeting human Ion Binding genes (Mouse homolog 70 genes). 1 Plate
SRP0003 This plate consists of 80 siRNAs targeting human Ion Binding genes (Mouse homolog 65 genes). 1 Plate
SRP0036 This plate consists of 80 siRNAs targeting human Kinase genes (Mouse homolog 77 genes). 1 Plate
SRP0043 This plate consists of 80 siRNAs targeting human Kinase genes (Mouse homolog 76 genes). 1 Plate
SRP0005 This plate consists of 80 siRNAs targeting human Ion Binding genes (Mouse homolog 67 genes). 1 Plate
SRP0006 This plate consists of 80 siRNAs targeting human Ion Binding genes (Mouse homolog 72 genes). 1 Plate
SRP0007 This plate consists of 80 siRNAs targeting human Ion Binding genes (Mouse homolog 71 genes). 1 Plate
SRP0008 This plate consists of 80 siRNAs targeting human Ion Binding genes (Mouse homolog 71 genes). 1 Plate


 

GENTAUR Belgium BVBA BE0473327336
Voortstraat 49, 1910 Kampenhout BELGIUM
Tel 0032 16 58 90 45

Fax 0032 16 50 90 45
info@gentaur.com | Gentaur | Gentaur





GENTAUR Ltd.
Unicorn House, Station Cl
Hertfordshire, Potters Bar EN6 1TL
Whetstone London N20 9BH
Tel 020 3393 8531 Fax 020 8445 9411
uk@gentaur.com | Gentaur | Gentaur

 

 




GENTAUR France SARL
9, rue Lagrange, 75005 Paris
Tel 01 43 25 01 50

Fax 01 43 25 01 60
RCS Paris B 484 237 888

SIRET 48423788800017
RIB 30004 00187 00010092253 10
BNP PARIBAS PARIS PL MAUBERT BIC BNPAFRPPPRG
IBAN FR76 3000 4001 8700 0100 9225 310
france@gentaur.com | Gentaur | Gentaur

GENTAUR GmbH
Marienbongard 20
52062 Aachen Deutschland
Support Karolina Elandt
Tel: 0035929830070
Fax: (+49) 241 56 00 47 88

Logistic :0241 40 08 90 86
Bankleitzahl 39050000
IBAN lautet DE8839050000107569353
Handelsregister Aachen HR B 16058
Umsatzsteuer-Identifikationsnummer *** DE 815175831
Steuernummer 201/5961/3925
de@gentaur.com | Gentaur | Gentaur

GENTAUR U.S.A
Genprice Inc, Logistics
547, Yurok Circle
San Jose, CA 95123
CA 95123
Tel (408) 780-0908,
Fax (408) 780-0908,
sales@genprice.com

Genprice Inc, Invoices and accounting
6017 Snell Ave, Ste 357
San Jose, CA 95123




GENTAUR Nederland BV
NL850396268B01 KVK nummer 52327027
Kuiper 1
5521 DG Eersel Nederland
Tel:  0208-080893  Fax: 0497-517897
nl@gentaur.com | Gentaur | Gentaur
IBAN: NL04 RABO 0156 9854 62   SWIFT RABONL2U






GENTAUR Spain
tel:0911876558
spain@gentaur.com | Gentaur | Gentaur






ГЕНТАУЪР БЪЛГАРИЯ
ID # 201 358 931 /BULSTAT
София 1000, ул. "Граф Игнатиев" 53 вх. В, ет. 2
Tel 0035924682280 Fax 0035924808322
e-mail: Sofia@gentaur.com | Gentaur | Gentaur
IBAN: BG11FINV91501014771636
BIC: FINVBGSF

GENTAUR Poland Sp. z o.o.


ul. Grunwaldzka 88/A m.2
81-771 Sopot, Poland
TEL Gdansk 058 710 33 44 FAX  058 710 33 48              

poland@gentaur.com | Gentaur | Gentaur

Other countries

Österreich +43720880899

Canada Montreal +15149077481

Ceská republika Praha +420246019719

Danmark +4569918806

Finland Helsset +358942419041

Magyarország Budapest +3619980547

Ireland Dublin+35316526556

Luxembourg+35220880274

Norge Oslo+4721031366

Sverige Stockholm+46852503438

Schweiz Züri+41435006251

US New York+17185132983

GENTAUR Italy
SRL IVA IT03841300167
Piazza Giacomo Matteotti, 6
24122 Bergamo Tel 02 36 00 65 93
Fax 02 36 00 65 94
italia@gentaur.com | Gentaur | Gentaur