Targeted Gene Panel Sequencing for Early-Onset Inflammatory Bowel Disease and Chronic Diarrhea

Targeted Gene Panel Sequencing for Early-Onset Inflammatory Bowel Disease and Chronic Diarrhea Publisher Pubmed

Petersen BS¹ ; August D² ; Abt R³ ; Alddafari M⁴ ; Atarod L⁵ ; Baris S⁶ ; Bhavsar H⁷ ; Brinkert F⁸ ; Buchta M² ; Bulashevska A² ; Chee R⁹ ; Cordeiro AI¹⁰ ; Dara N¹¹ ; Duckers G¹² Show All Authors

Petersen BS¹
August D²
Abt R³
Alddafari M⁴
Atarod L⁵
Baris S⁶
Bhavsar H⁷
Brinkert F⁸
Buchta M²
Bulashevska A²
Chee R⁹
Cordeiro AI¹⁰
Dara N¹¹
Duckers G¹²
Elmarsafy A¹³
Frede N²
Galal N¹³
Gerner P¹⁴
Glocker EO^{15, 38}
Goldacker S²
Hammermann J¹⁶
Hasselblatt P¹⁷
Havlicekova Z¹⁸
Hubscher K²
Jesenak M¹⁸
Karaca NE¹⁹
Karakocaydiner E⁶
Kharaghani MM²⁰
Kilic SS²¹
Kiykim A⁶
Klein C²²
Klemann C^{23, 24}
Kobbe R⁸
Kotlarz D²²
Laass MW¹⁶
Leahy TR²⁵
Mesdaghi M²⁶
Mitton S²⁷
Neves JF¹⁰
Ozturk B²⁸
Pereira LF²⁹
Rohr J²
Restrepo JLR²
Ruzaike G³⁰
Saleh N³¹
Seneviratne S³²
Senol E²⁸
Speckmann C²
Tegtmeyer D¹⁴
Thankam P³³
Van Der Werff Ten Bosch J³⁴
Von Bernuth H³⁵
Zeissig S^{36, 37}
Zeissig Y¹⁶
Franke A¹
Grimbacher B²

Source: Inflammatory Bowel Diseases Published:2017

Abstract

Background: In contrast to adult-onset inflammatory bowel disease (IBD), where many genetic loci have been shown to be involved in complex disease etiology, early-onset IBD (eoIBD) and associated syndromes can sometimes present as monogenic conditions. As a result, the clinical phenotype and ideal disease management in these patients often differ from those in adult-onset IBD. However, due to high costs and the complexity of data analysis, high-throughput screening for genetic causes has not yet become a standard part of the diagnostic work-up of eoIBD patients. Methods: We selected 28 genes of interest associated with monogenic IBD and performed targeted panel sequencing in 71 patients diagnosed with eoIBD or early-onset chronic diarrhea to detect causative variants. We compared these results to whole-exome sequencing (WES) data available for 25 of these patients. Results: Target coverage was significantly higher in the targeted gene panel approach compared with WES, whereas the cost of the panel was considerably lower (approximately 25% of WES). Disease-causing variants affecting protein function were identified in 5 patients (7%), located in genes of the IL10 signaling pathway (3), WAS (1), and DKC1 (1). The functional effects of 8 candidate variants in 5 additional patients (7%) are under further investigation. WES did not identify additional causative mutations in 25 patients. Conclusions: Targeted gene panel sequencing is a fast and effective screening method for monogenic causes of eoIBD that should be routinely established in national referral centers. © 2017 Oxford University Press. All rights reserved.

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Style	Citing Format
MLA	Petersen BS, et al.. "Targeted Gene Panel Sequencing for Early-Onset Inflammatory Bowel Disease and Chronic Diarrhea." Inflammatory Bowel Diseases, vol. 23, no. 12, 2017, pp. 2109-2120.
APA	Petersen BS, August D, Abt R, Alddafari M, Atarod L, Baris S, Bhavsar H, Brinkert F, Buchta M, Bulashevska A, Chee R, Cordeiro AI, Dara N, Duckers G, Elmarsafy A, Frede N, Galal N, Gerner P, Glocker EO, ... Grimbacher B (2017). Targeted Gene Panel Sequencing for Early-Onset Inflammatory Bowel Disease and Chronic Diarrhea. Inflammatory Bowel Diseases, 23(12), 2109-2120.
Chicago	Petersen BS, August D, Abt R, Alddafari M, Atarod L, Baris S, Bhavsar H, et al.. "Targeted Gene Panel Sequencing for Early-Onset Inflammatory Bowel Disease and Chronic Diarrhea." Inflammatory Bowel Diseases 23, no. 12 (2017): 2109-2120.
Harvard	Petersen BS et al. (2017) 'Targeted Gene Panel Sequencing for Early-Onset Inflammatory Bowel Disease and Chronic Diarrhea', Inflammatory Bowel Diseases, 23(12), pp. 2109-2120.
Vancouver	Petersen BS, August D, Abt R, Alddafari M, Atarod L, Baris S, et al.. Targeted Gene Panel Sequencing for Early-Onset Inflammatory Bowel Disease and Chronic Diarrhea. Inflammatory Bowel Diseases. 2017;23(12):2109-2120.
BibTex	@article{ author = {Petersen BS and August D and Abt R and Alddafari M and Atarod L and Baris S and Bhavsar H and Brinkert F and Buchta M and Bulashevska A and Chee R and Cordeiro AI and Dara N and Duckers G and Elmarsafy A and Frede N and Galal N and Gerner P and Glocker EO and Goldacker S and Hammermann J and Hasselblatt P and Havlicekova Z and Hubscher K and Jesenak M and Karaca NE and Karakocaydiner E and Kharaghani MM and Kilic SS and Kiykim A and Klein C and Klemann C and Kobbe R and Kotlarz D and Laass MW and Leahy TR and Mesdaghi M and Mitton S and Neves JF and Ozturk B and Pereira LF and Rohr J and Restrepo JLR and Ruzaike G and Saleh N and Seneviratne S and Senol E and Speckmann C and Tegtmeyer D and Thankam P and Van Der Werff Ten Bosch J and Von Bernuth H and Zeissig S and Zeissig Y and Franke A and Grimbacher B}, title = {Targeted Gene Panel Sequencing for Early-Onset Inflammatory Bowel Disease and Chronic Diarrhea}, journal = {Inflammatory Bowel Diseases}, volume = {23}, number = {12}, pages = {2109-2120}, year = {2017} }
RIS	TY - JOUR AU - Petersen BS AU - August D AU - Abt R AU - Alddafari M AU - Atarod L AU - Baris S AU - Bhavsar H AU - Brinkert F AU - Buchta M AU - Bulashevska A AU - Chee R AU - Cordeiro AI AU - Dara N AU - Duckers G AU - Elmarsafy A AU - Frede N AU - Galal N AU - Gerner P AU - Glocker EO AU - Goldacker S AU - Hammermann J AU - Hasselblatt P AU - Havlicekova Z AU - Hubscher K AU - Jesenak M AU - Karaca NE AU - Karakocaydiner E AU - Kharaghani MM AU - Kilic SS AU - Kiykim A AU - Klein C AU - Klemann C AU - Kobbe R AU - Kotlarz D AU - Laass MW AU - Leahy TR AU - Mesdaghi M AU - Mitton S AU - Neves JF AU - Ozturk B AU - Pereira LF AU - Rohr J AU - Restrepo JLR AU - Ruzaike G AU - Saleh N AU - Seneviratne S AU - Senol E AU - Speckmann C AU - Tegtmeyer D AU - Thankam P AU - Van Der Werff Ten Bosch J AU - Von Bernuth H AU - Zeissig S AU - Zeissig Y AU - Franke A AU - Grimbacher B TI - Targeted Gene Panel Sequencing for Early-Onset Inflammatory Bowel Disease and Chronic Diarrhea JO - Inflammatory Bowel Diseases VL - 23 IS - 12 SP - 2109 EP - 2120 PY - 2017 ER -

Style

Citing Format

MLA

Petersen BS, et al.. "Targeted Gene Panel Sequencing for Early-Onset Inflammatory Bowel Disease and Chronic Diarrhea." Inflammatory Bowel Diseases, vol. 23, no. 12, 2017, pp. 2109-2120.

APA

Petersen BS, August D, Abt R, Alddafari M, Atarod L, Baris S, Bhavsar H, Brinkert F, Buchta M, Bulashevska A, Chee R, Cordeiro AI, Dara N, Duckers G, Elmarsafy A, Frede N, Galal N, Gerner P, Glocker EO, ... Grimbacher B (2017). Targeted Gene Panel Sequencing for Early-Onset Inflammatory Bowel Disease and Chronic Diarrhea. Inflammatory Bowel Diseases, 23(12), 2109-2120.

Chicago

Petersen BS, August D, Abt R, Alddafari M, Atarod L, Baris S, Bhavsar H, et al.. "Targeted Gene Panel Sequencing for Early-Onset Inflammatory Bowel Disease and Chronic Diarrhea." Inflammatory Bowel Diseases 23, no. 12 (2017): 2109-2120.

Harvard

Petersen BS et al. (2017) 'Targeted Gene Panel Sequencing for Early-Onset Inflammatory Bowel Disease and Chronic Diarrhea', Inflammatory Bowel Diseases, 23(12), pp. 2109-2120.

Vancouver

Petersen BS, August D, Abt R, Alddafari M, Atarod L, Baris S, et al.. Targeted Gene Panel Sequencing for Early-Onset Inflammatory Bowel Disease and Chronic Diarrhea. Inflammatory Bowel Diseases. 2017;23(12):2109-2120.

BibTex

@article{ author = {Petersen BS and August D and Abt R and Alddafari M and Atarod L and Baris S and Bhavsar H and Brinkert F and Buchta M and Bulashevska A and Chee R and Cordeiro AI and Dara N and Duckers G and Elmarsafy A and Frede N and Galal N and Gerner P and Glocker EO and Goldacker S and Hammermann J and Hasselblatt P and Havlicekova Z and Hubscher K and Jesenak M and Karaca NE and Karakocaydiner E and Kharaghani MM and Kilic SS and Kiykim A and Klein C and Klemann C and Kobbe R and Kotlarz D and Laass MW and Leahy TR and Mesdaghi M and Mitton S and Neves JF and Ozturk B and Pereira LF and Rohr J and Restrepo JLR and Ruzaike G and Saleh N and Seneviratne S and Senol E and Speckmann C and Tegtmeyer D and Thankam P and Van Der Werff Ten Bosch J and Von Bernuth H and Zeissig S and Zeissig Y and Franke A and Grimbacher B}, title = {Targeted Gene Panel Sequencing for Early-Onset Inflammatory Bowel Disease and Chronic Diarrhea}, journal = {Inflammatory Bowel Diseases}, volume = {23}, number = {12}, pages = {2109-2120}, year = {2017} }

RIS

TY - JOUR
AU - Petersen BS
AU - August D
AU - Abt R
AU - Alddafari M
AU - Atarod L
AU - Baris S
AU - Bhavsar H
AU - Brinkert F
AU - Buchta M
AU - Bulashevska A
AU - Chee R
AU - Cordeiro AI
AU - Dara N
AU - Duckers G
AU - Elmarsafy A
AU - Frede N
AU - Galal N
AU - Gerner P
AU - Glocker EO
AU - Goldacker S
AU - Hammermann J
AU - Hasselblatt P
AU - Havlicekova Z
AU - Hubscher K
AU - Jesenak M
AU - Karaca NE
AU - Karakocaydiner E
AU - Kharaghani MM
AU - Kilic SS
AU - Kiykim A
AU - Klein C
AU - Klemann C
AU - Kobbe R
AU - Kotlarz D
AU - Laass MW
AU - Leahy TR
AU - Mesdaghi M
AU - Mitton S
AU - Neves JF
AU - Ozturk B
AU - Pereira LF
AU - Rohr J
AU - Restrepo JLR
AU - Ruzaike G
AU - Saleh N
AU - Seneviratne S
AU - Senol E
AU - Speckmann C
AU - Tegtmeyer D
AU - Thankam P
AU - Van Der Werff Ten Bosch J
AU - Von Bernuth H
AU - Zeissig S
AU - Zeissig Y
AU - Franke A
AU - Grimbacher B
TI - Targeted Gene Panel Sequencing for Early-Onset Inflammatory Bowel Disease and Chronic Diarrhea
JO - Inflammatory Bowel Diseases
VL - 23
IS - 12
SP - 2109
EP - 2120
PY - 2017
ER -

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