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Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome

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Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome. / Rolvien, Tim; Kornak, Uwe; Linke, Stephan J; Amling, Michael; Oheim, Ralf.

In: CALCIFIED TISSUE INT, Vol. 107, No. 3, 09.2020, p. 294-299.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Rolvien, T, Kornak, U, Linke, SJ, Amling, M & Oheim, R 2020, 'Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome', CALCIFIED TISSUE INT, vol. 107, no. 3, pp. 294-299. https://doi.org/10.1007/s00223-020-00721-3

APA

Rolvien, T., Kornak, U., Linke, S. J., Amling, M., & Oheim, R. (2020). Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome. CALCIFIED TISSUE INT, 107(3), 294-299. https://doi.org/10.1007/s00223-020-00721-3

Vancouver

Rolvien T, Kornak U, Linke SJ, Amling M, Oheim R. Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome. CALCIFIED TISSUE INT. 2020 Sep;107(3):294-299. https://doi.org/10.1007/s00223-020-00721-3

Bibtex

@article{19db949798234a02882ba91eff65569f,
title = "Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome",
abstract = "Connective tissue diseases, including osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS), exhibit a high degree of clinical and genetic heterogeneity. We report two sisters with blue sclerae, joint hypermobility and hearing loss. Whole-exome sequencing identified two compound heterozygous ZNF469 loss-of-function mutations due to a frameshift. Since these findings indicate the presence of brittle cornea syndrome (BCS), we performed ocular optical coherence tomography (OCT) and pachymetry, which revealed a moderate decrease in corneal thickness. While only one traumatic fracture was observed in each of the patients, a detailed skeletal assessment indicated no specific patterns of bone mass and microstructure reduction as well as normal bone turnover markers. Taken together, our findings point to a mild form of brittle cornea syndrome with a phenotype compatible with the extraskeletal features of OI but also with EDS.",
author = "Tim Rolvien and Uwe Kornak and Linke, {Stephan J} and Michael Amling and Ralf Oheim",
year = "2020",
month = sep,
doi = "10.1007/s00223-020-00721-3",
language = "English",
volume = "107",
pages = "294--299",
journal = "CALCIFIED TISSUE INT",
issn = "0171-967X",
publisher = "Springer New York",
number = "3",

}

RIS

TY - JOUR

T1 - Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome

AU - Rolvien, Tim

AU - Kornak, Uwe

AU - Linke, Stephan J

AU - Amling, Michael

AU - Oheim, Ralf

PY - 2020/9

Y1 - 2020/9

N2 - Connective tissue diseases, including osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS), exhibit a high degree of clinical and genetic heterogeneity. We report two sisters with blue sclerae, joint hypermobility and hearing loss. Whole-exome sequencing identified two compound heterozygous ZNF469 loss-of-function mutations due to a frameshift. Since these findings indicate the presence of brittle cornea syndrome (BCS), we performed ocular optical coherence tomography (OCT) and pachymetry, which revealed a moderate decrease in corneal thickness. While only one traumatic fracture was observed in each of the patients, a detailed skeletal assessment indicated no specific patterns of bone mass and microstructure reduction as well as normal bone turnover markers. Taken together, our findings point to a mild form of brittle cornea syndrome with a phenotype compatible with the extraskeletal features of OI but also with EDS.

AB - Connective tissue diseases, including osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS), exhibit a high degree of clinical and genetic heterogeneity. We report two sisters with blue sclerae, joint hypermobility and hearing loss. Whole-exome sequencing identified two compound heterozygous ZNF469 loss-of-function mutations due to a frameshift. Since these findings indicate the presence of brittle cornea syndrome (BCS), we performed ocular optical coherence tomography (OCT) and pachymetry, which revealed a moderate decrease in corneal thickness. While only one traumatic fracture was observed in each of the patients, a detailed skeletal assessment indicated no specific patterns of bone mass and microstructure reduction as well as normal bone turnover markers. Taken together, our findings point to a mild form of brittle cornea syndrome with a phenotype compatible with the extraskeletal features of OI but also with EDS.

U2 - 10.1007/s00223-020-00721-3

DO - 10.1007/s00223-020-00721-3

M3 - SCORING: Journal article

C2 - 32671420

VL - 107

SP - 294

EP - 299

JO - CALCIFIED TISSUE INT

JF - CALCIFIED TISSUE INT

SN - 0171-967X

IS - 3

ER -