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 :29321672
Publication Date : //

Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin.


Molecular characterization of balanced chromosomal abnormalities constitutes a powerful tool in understanding the pathogenic mechanisms of complex genetic disorders. Here we report a male with severe global developmental delay in the presence of a complex karyotype and normal microarray and exome studies. The subject, referred to as DGAP294, has two de novo apparently balanced translocations involving chromosomes 1 and 14, and chromosomes 4 and 10, disrupting several different transcripts of adhesion G protein-coupled receptor L2 (ADGRL2) and protocadherin 15 (PCDH15). In addition, a maternally inherited inversion disrupts peptidyl arginine deiminase types 3 and 4 (PADI3 and PADI4) on chromosome 1. None of these gene disruptions explain the patient's phenotype. Using genome regulatory annotations and chromosome conformation data, we predict a position effect ~370 kb upstream of a translocation breakpoint located at 14q12. The position effect involves forkhead box G1 (FOXG1), mutations in which are associated with the congenital form of Rett syndrome and FOXG1 syndrome. We believe the FOXG1 position effect largely accounts for the clinical phenotype in DGAP294, which can be classified as FOXG1 syndrome like. Our findings emphasize the significance of not only analyzing disrupted genes by chromosomal rearrangements, but also evaluating potential long-range position effects in clinical diagnoses.

Authors : Zepeda-Mendoza Cinthya J , Bardon Alexandra , Kammin Tammy , Harris David J , Cox Helen , Redin Claire , Ordulu Zehra , Talkowski Michael E , Morton Cynthia C ,

Related products :

Catalog number Product name Quantity
30-714 C3orf10 is involved in regulation of actin and microtubule organization. It is a part of a WAVE complex that activates the Arp2_3 complex. 0.1 mg
EIAAB40078 Chromatin-specific transcription elongation factor 80 kDa subunit,Facilitates chromatin transcription complex 80 kDa subunit,Facilitates chromatin transcription complex subunit SSRP1,FACT 80 kDa subun
EIAAB07249 CHRAC1,CHRAC-1,CHRAC15,CHRAC-15,Chromatin accessibility complex 15 kDa protein,Chromatin accessibility complex protein 1,DNA polymerase epsilon subunit p15,Homo sapiens,HuCHRAC15,Human
28-823 SMARCE1 is part of the large ATP-dependent chromatin remodeling complex SWI_SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The protein, either alone or 0.05 mg
26-010 TMPO may be involved in the structural organization of the nucleus and in the post-mitotic nuclear assembly. It plays an important role, together with LMNA, in the nuclear anchorage of RB1. 0.05 mg
25-199 The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase_ATPase domains. CHD genes alter gene expression possibly by mo 0.05 mg
FP-0106 SUPT6H (EMB-5) (Chromatin structural protein) 10ug
30-174 NCAPD2 is the regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces p 0.05 mg
FP-0106 SUPT6H (EMB_5) (Chromatin structural protein) 10 ug
30-789 CNN2, which can bind actin, calmodulin, troponin C, and tropomyosin, may function in the structural organization of actin filaments. CNN2 could play a role in smooth muscle contraction and cell adhesi 0.05 mg
30-790 CNN2, which can bind actin, calmodulin, troponin C, and tropomyosin, may function in the structural organization of actin filaments. CNN2 could play a role in smooth muscle contraction and cell adhesi 0.05 mg
26-111 NCAPH is a member of the barr family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein is a 0.05 mg
30-178 NCAPH is a member of the barr family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein is a 0.05 mg
25-194 DPF3 is a muscle-specific component of the BAF complex, a multiprotein complex involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleoso 0.05 mg
EIAAB39319 Chromatin-specific transcription elongation factor 140 kDa subunit,Facilitates chromatin transcription complex subunit SPT16,FACT 140 kDa subunit,FACT complex subunit SPT16,Fact140,FACTp140,Factp140,M
EIAAB39318 Chromatin-specific transcription elongation factor 140 kDa subunit,Facilitates chromatin transcription complex subunit SPT16,FACT 140 kDa subunit,FACT complex subunit SPT16,FACT140,FACTp140,FACTP140,H
27-448 This protein is a member of the non-histone chromosomal high mobility group family. The proteins of this family are chromatin-associated and ubiquitously distributed in the nucleus of higher eukaryoti 0.05 mg
30-193 CDT1 cooperates with CDC6 to promote the loading of the mini-chromosome maintenance complex onto chromatin to form the pre-replication complex necessary to initiate DNA replication. It binds DNA in a 0.05 mg
FP-0106 Fusion proteins: SUPT6H (EMB-5) (Chromatin structural protein), SUPT6H 10ug
FP-0106 SUPT6H (EMB-5) (Chromatin structural protein); SH2-Domain: SUPT6H 10ug
RPR-391 Recombinant Human Chromatin Accessibility Complex 1 5
CHRDL1 CHRAC1 Gene chromatin accessibility complex 1
pro-1391 Recombinant Human Chromatin Accessibility Complex 1 20
pro-1391 Recombinant Human Chromatin Accessibility Complex 1 1mg
pro-1391 Recombinant Human Chromatin Accessibility Complex 1 5


 

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

BNP PARIBAS PARIS PL MAUBERT BIC BNPAFRPPPRG

france@gentaur.com | 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 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
IBAN: NL04 RABO 0156 9854 62   SWIFT RABONL2U






GENTAUR Spain
tel:0911876558
spain@gentaur.com | 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
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

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