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Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association

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Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. / Hilger, Alina C; Halbritter, Jan; Pennimpede, Tracie; van der Ven, Amelie; Sarma, Georgia; Braun, Daniela A; Porath, Jonathan D; Kohl, Stefan; Hwang, Daw-Yang; Dworschak, Gabriel C; Hermann, Bernhard G; Pavlova, Anna; El-Maarri, Osman; Nöthen, Markus M; Ludwig, Michael; Reutter, Heiko; Hildebrandt, Friedhelm.

in: HUM MUTAT, Jahrgang 36, Nr. 12, 12.2015, S. 1150-4.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Hilger, AC, Halbritter, J, Pennimpede, T, van der Ven, A, Sarma, G, Braun, DA, Porath, JD, Kohl, S, Hwang, D-Y, Dworschak, GC, Hermann, BG, Pavlova, A, El-Maarri, O, Nöthen, MM, Ludwig, M, Reutter, H & Hildebrandt, F 2015, 'Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association', HUM MUTAT, Jg. 36, Nr. 12, S. 1150-4. https://doi.org/10.1002/humu.22859

APA

Hilger, A. C., Halbritter, J., Pennimpede, T., van der Ven, A., Sarma, G., Braun, D. A., Porath, J. D., Kohl, S., Hwang, D-Y., Dworschak, G. C., Hermann, B. G., Pavlova, A., El-Maarri, O., Nöthen, M. M., Ludwig, M., Reutter, H., & Hildebrandt, F. (2015). Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. HUM MUTAT, 36(12), 1150-4. https://doi.org/10.1002/humu.22859

Vancouver

Hilger AC, Halbritter J, Pennimpede T, van der Ven A, Sarma G, Braun DA et al. Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. HUM MUTAT. 2015 Dez;36(12):1150-4. https://doi.org/10.1002/humu.22859

Bibtex

@article{2ff1235f984843de8ff82db63964afa2,
title = "Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association",
abstract = "The VATER/VACTERL association describes the combination of congenital anomalies including vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects. As mutations in ciliary genes were observed in diseases related to VATER/VACTERL, we performed targeted resequencing of 25 ciliary candidate genes as well as disease-associated genes (FOXF1, HOXD13, PTEN, ZIC3) in 123 patients with VATER/VACTERL or VATER/VACTERL-like phenotype. We detected no biallelic mutation in any of the 25 ciliary candidate genes; however, identified an identical, probably disease-causing ZIC3 missense mutation (p.Gly17Cys) in four patients and a FOXF1 de novo mutation (p.Gly220Cys) in a further patient. In situ hybridization analyses in mouse embryos between E9.5 and E14.5 revealed Zic3 expression in limb and prevertebral structures, and Foxf1 expression in esophageal, tracheal, vertebral, anal, and genital tubercle tissues, hence VATER/VACTERL organ systems. These data provide strong evidence that mutations in ZIC3 or FOXF1 contribute to VATER/VACTERL. ",
keywords = "Alleles, Anal Canal/abnormalities, Animals, Anus, Imperforate/diagnosis, Cilia/genetics, Computational Biology/methods, DNA Mutational Analysis, Esophagus/abnormalities, Female, Forkhead Transcription Factors/genetics, Genetic Association Studies, Genotype, Heart Defects, Congenital/diagnosis, High-Throughput Nucleotide Sequencing, Homeodomain Proteins/genetics, Humans, Immunohistochemistry, Kidney/abnormalities, Limb Deformities, Congenital/diagnosis, Male, Mice, Mutation, Phenotype, Radius/abnormalities, Spine/abnormalities, Trachea/abnormalities, Transcription Factors/genetics",
author = "Hilger, {Alina C} and Jan Halbritter and Tracie Pennimpede and {van der Ven}, Amelie and Georgia Sarma and Braun, {Daniela A} and Porath, {Jonathan D} and Stefan Kohl and Daw-Yang Hwang and Dworschak, {Gabriel C} and Hermann, {Bernhard G} and Anna Pavlova and Osman El-Maarri and N{\"o}then, {Markus M} and Michael Ludwig and Heiko Reutter and Friedhelm Hildebrandt",
note = "{\textcopyright} 2015 WILEY PERIODICALS, INC.",
year = "2015",
month = dec,
doi = "10.1002/humu.22859",
language = "English",
volume = "36",
pages = "1150--4",
journal = "HUM MUTAT",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "12",

}

RIS

TY - JOUR

T1 - Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association

AU - Hilger, Alina C

AU - Halbritter, Jan

AU - Pennimpede, Tracie

AU - van der Ven, Amelie

AU - Sarma, Georgia

AU - Braun, Daniela A

AU - Porath, Jonathan D

AU - Kohl, Stefan

AU - Hwang, Daw-Yang

AU - Dworschak, Gabriel C

AU - Hermann, Bernhard G

AU - Pavlova, Anna

AU - El-Maarri, Osman

AU - Nöthen, Markus M

AU - Ludwig, Michael

AU - Reutter, Heiko

AU - Hildebrandt, Friedhelm

N1 - © 2015 WILEY PERIODICALS, INC.

PY - 2015/12

Y1 - 2015/12

N2 - The VATER/VACTERL association describes the combination of congenital anomalies including vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects. As mutations in ciliary genes were observed in diseases related to VATER/VACTERL, we performed targeted resequencing of 25 ciliary candidate genes as well as disease-associated genes (FOXF1, HOXD13, PTEN, ZIC3) in 123 patients with VATER/VACTERL or VATER/VACTERL-like phenotype. We detected no biallelic mutation in any of the 25 ciliary candidate genes; however, identified an identical, probably disease-causing ZIC3 missense mutation (p.Gly17Cys) in four patients and a FOXF1 de novo mutation (p.Gly220Cys) in a further patient. In situ hybridization analyses in mouse embryos between E9.5 and E14.5 revealed Zic3 expression in limb and prevertebral structures, and Foxf1 expression in esophageal, tracheal, vertebral, anal, and genital tubercle tissues, hence VATER/VACTERL organ systems. These data provide strong evidence that mutations in ZIC3 or FOXF1 contribute to VATER/VACTERL.

AB - The VATER/VACTERL association describes the combination of congenital anomalies including vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects. As mutations in ciliary genes were observed in diseases related to VATER/VACTERL, we performed targeted resequencing of 25 ciliary candidate genes as well as disease-associated genes (FOXF1, HOXD13, PTEN, ZIC3) in 123 patients with VATER/VACTERL or VATER/VACTERL-like phenotype. We detected no biallelic mutation in any of the 25 ciliary candidate genes; however, identified an identical, probably disease-causing ZIC3 missense mutation (p.Gly17Cys) in four patients and a FOXF1 de novo mutation (p.Gly220Cys) in a further patient. In situ hybridization analyses in mouse embryos between E9.5 and E14.5 revealed Zic3 expression in limb and prevertebral structures, and Foxf1 expression in esophageal, tracheal, vertebral, anal, and genital tubercle tissues, hence VATER/VACTERL organ systems. These data provide strong evidence that mutations in ZIC3 or FOXF1 contribute to VATER/VACTERL.

KW - Alleles

KW - Anal Canal/abnormalities

KW - Animals

KW - Anus, Imperforate/diagnosis

KW - Cilia/genetics

KW - Computational Biology/methods

KW - DNA Mutational Analysis

KW - Esophagus/abnormalities

KW - Female

KW - Forkhead Transcription Factors/genetics

KW - Genetic Association Studies

KW - Genotype

KW - Heart Defects, Congenital/diagnosis

KW - High-Throughput Nucleotide Sequencing

KW - Homeodomain Proteins/genetics

KW - Humans

KW - Immunohistochemistry

KW - Kidney/abnormalities

KW - Limb Deformities, Congenital/diagnosis

KW - Male

KW - Mice

KW - Mutation

KW - Phenotype

KW - Radius/abnormalities

KW - Spine/abnormalities

KW - Trachea/abnormalities

KW - Transcription Factors/genetics

U2 - 10.1002/humu.22859

DO - 10.1002/humu.22859

M3 - SCORING: Journal article

C2 - 26294094

VL - 36

SP - 1150

EP - 1154

JO - HUM MUTAT

JF - HUM MUTAT

SN - 1059-7794

IS - 12

ER -