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Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT

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Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT : A Case Report. / van der Ven, Amelie T; Shril, Shirlee; Ityel, Hadas; Vivante, Asaf; Chen, Jing; Hwang, Daw-Yang; Laricchia, Kristen M; Lek, Monkol; Tasic, Velibor; Hildebrandt, Friedhelm.

in: MOL SYNDROMOL, Jahrgang 8, Nr. 5, 08.2017, S. 272-277.

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

Harvard

van der Ven, AT, Shril, S, Ityel, H, Vivante, A, Chen, J, Hwang, D-Y, Laricchia, KM, Lek, M, Tasic, V & Hildebrandt, F 2017, 'Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report', MOL SYNDROMOL, Jg. 8, Nr. 5, S. 272-277. https://doi.org/10.1159/000477750

APA

van der Ven, A. T., Shril, S., Ityel, H., Vivante, A., Chen, J., Hwang, D-Y., Laricchia, K. M., Lek, M., Tasic, V., & Hildebrandt, F. (2017). Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report. MOL SYNDROMOL, 8(5), 272-277. https://doi.org/10.1159/000477750

Vancouver

van der Ven AT, Shril S, Ityel H, Vivante A, Chen J, Hwang D-Y et al. Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report. MOL SYNDROMOL. 2017 Aug;8(5):272-277. https://doi.org/10.1159/000477750

Bibtex

@article{4623114ff72645b4a3cffda86a74f8f2,
title = "Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report",
abstract = "We present the case of a patient of Macedonian origin with unilateral renal agenesis and ureterovesical junction obstruction in combination with further abnormalities including midface hypoplasia, scoliosis as well as camptodactyly of one toe. Whole-exome sequencing analysis revealed compound heterozygous variants in the FAT4 gene. Recessive variants in FAT4 are a known cause of van Maldergem syndrome (VMS) in which congenital anomalies of the kidney and urinary tract are a less characteristic but common feature. The initial presentation of our patient was not clinically recognizable. However, in view of the molecular findings, the most likely diagnosis is a mild manifestation of VMS. Only very few publications have reported patients with VMS and mutations in FAT4 to date. With this case, we hope to provide further insight into the phenotypic variability of this syndrome.",
author = "{van der Ven}, {Amelie T} and Shirlee Shril and Hadas Ityel and Asaf Vivante and Jing Chen and Daw-Yang Hwang and Laricchia, {Kristen M} and Monkol Lek and Velibor Tasic and Friedhelm Hildebrandt",
year = "2017",
month = aug,
doi = "10.1159/000477750",
language = "English",
volume = "8",
pages = "272--277",
journal = "MOL SYNDROMOL",
issn = "1661-8769",
publisher = "S. Karger AG",
number = "5",

}

RIS

TY - JOUR

T1 - Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT

T2 - A Case Report

AU - van der Ven, Amelie T

AU - Shril, Shirlee

AU - Ityel, Hadas

AU - Vivante, Asaf

AU - Chen, Jing

AU - Hwang, Daw-Yang

AU - Laricchia, Kristen M

AU - Lek, Monkol

AU - Tasic, Velibor

AU - Hildebrandt, Friedhelm

PY - 2017/8

Y1 - 2017/8

N2 - We present the case of a patient of Macedonian origin with unilateral renal agenesis and ureterovesical junction obstruction in combination with further abnormalities including midface hypoplasia, scoliosis as well as camptodactyly of one toe. Whole-exome sequencing analysis revealed compound heterozygous variants in the FAT4 gene. Recessive variants in FAT4 are a known cause of van Maldergem syndrome (VMS) in which congenital anomalies of the kidney and urinary tract are a less characteristic but common feature. The initial presentation of our patient was not clinically recognizable. However, in view of the molecular findings, the most likely diagnosis is a mild manifestation of VMS. Only very few publications have reported patients with VMS and mutations in FAT4 to date. With this case, we hope to provide further insight into the phenotypic variability of this syndrome.

AB - We present the case of a patient of Macedonian origin with unilateral renal agenesis and ureterovesical junction obstruction in combination with further abnormalities including midface hypoplasia, scoliosis as well as camptodactyly of one toe. Whole-exome sequencing analysis revealed compound heterozygous variants in the FAT4 gene. Recessive variants in FAT4 are a known cause of van Maldergem syndrome (VMS) in which congenital anomalies of the kidney and urinary tract are a less characteristic but common feature. The initial presentation of our patient was not clinically recognizable. However, in view of the molecular findings, the most likely diagnosis is a mild manifestation of VMS. Only very few publications have reported patients with VMS and mutations in FAT4 to date. With this case, we hope to provide further insight into the phenotypic variability of this syndrome.

U2 - 10.1159/000477750

DO - 10.1159/000477750

M3 - SCORING: Journal article

C2 - 28878612

VL - 8

SP - 272

EP - 277

JO - MOL SYNDROMOL

JF - MOL SYNDROMOL

SN - 1661-8769

IS - 5

ER -