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 :26084711
Publication Date : //

Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.

Whole exome sequencing (WES) has been utilized with increasing frequency to identify mutations underlying rare diseases. Autism spectrum disorders (ASD) and intellectual disability (ID) are genetically heterogeneous, and novel genes for these disorders are rapidly being identified, making these disorders ideal candidates for WES. Here we report a 17-year-old girl with ASD, developmental delay, ID, seizures, Chiari I malformation, macrocephaly, and short stature. She was found by WES to have a de novo c.2028delT (P677LfsX19) mutation in the SET domain-containing protein 2 (SETD2) gene, predicted to be gene-damaging. This case offers evidence for the potential the role of SETD2 in ASD and ID and provides further detail about the phenotypic manifestations of mutations in SETD2.

Authors : Lumish Heidi S , Wynn Julia , Devinsky Orrin , Chung Wendy K ,

Related products :

Catalog number Product name Quantity
CSB-EL021103HU Human Histone-lysine N-methyltransferase SETD2(SETD2) ELISA kit SpeciesHuman 96T
CSB-EL021103HU Human Histone-lysine N-methyltransferase SETD2(SETD2) ELISA kit 96T
A3194 SETD2 Primary Antibody, SETD2, Species: Human Recombinant Protein Source: Rabbit Polyclonal 50ug
KMCT534 Full-Functional Five-year-old Child Child Nursing Manikin (Nursing, CPR, Auscultation, Defibrillation and Pacing, ECG)
SETD2 SETD2 Gene SET domain containing 2
orb81454 Human Ubiquitin Lys 48 to Arg 48 mutation protein Recombinant human ubiquitin featuring Lys 48 to Arg48 mutation is useful for the reduction of poly-Ub chain length and conjugation rates.Ubiquitin K48 5
orb91818 Human SETD2 gene Human SETD2 gene is a cDNA gene. For research use only. 10
E3971h Human Deleted In Autism 1 ELISA Kit 96T
DEPI-123-X Human Sample (Epilepsy) Individual 1ml
ECD ECA1 Gene epilepsy, childhood absence 1
DEPI-123-X Human Sample (Epilepsy) Individual 5 ml
DEPI-123-V Human Sample (Epilepsy) Individual unit
DEPI-123-V Human Sample (Epilepsy) Individual 1unit
EGLN2 EGI Gene epilepsy, generalized, idiopathic
DEPI-123-V Human Sample (Epilepsy) Individual 1 unit
ASD1H1_F2S Autism Spectrum Disorders ,ASD1H1:2 SignArrays
ASD1H1_B12S Autism Spectrum Disorders ,ASD1H1,12 SignArrays
ASD1H1_F24S Autism Spectrum Disorders ,ASD1H1:24 SignArrays
ASD1H1_B8S Autism Spectrum Disorders ,ASD1H1,8 SignArrays
ASD1H1_B4S Autism Spectrum Disorders ,ASD1H1,4 SignArrays
ASD1H1_B24S Autism Spectrum Disorders ,ASD1H1,24 SignArrays
ASD1H1_B2S Autism Spectrum Disorders ,ASD1H1,2 SignArrays
ASD1H1_F4S Autism Spectrum Disorders ,ASD1H1:4 SignArrays
AUTS5 AUTS2 Gene autism susceptibility candidate 2
ASD1H1_R24S Autism Spectrum Disorders ,ASD1H1:24 SignArrays


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

Howard Frank Turnberry House
1404-1410 High Road
Whetstone London N20 9BH
Tel 020 3393 8531 Fax 020 8445 9411
uk@gentaur.com | Gentaur



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


france@gentaur.com | Gentaur

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

Genprice Inc, Logistics
547, Yurok Circle
San Jose, CA 95123
CA 95123
Tel (408) 780-0908,
Fax (408) 780-0908,

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
IBAN: NL04 RABO 0156 9854 62   SWIFT RABONL2U

spain@gentaur.com | Gentaur

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
IBAN: BG11FINV91501014771636

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

Other countries

Österreich +43720880899

Canada Montreal +15149077481

Ceská republika Praha +420246019719

Danmark +4569918806

Finland Helsset +358942419041

Magyarország Budapest +3619980547

Ireland Dublin+35316526556


Norge Oslo+4721031366

Sverige Stockholm+46852503438

Schweiz Züri+41435006251

US New York+17185132983

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