Fryns syndrome: Case report and review of the literature

Yücesoy, Gülseren; Çakıroğlu, Yiğit; Çalışkan, Eray

doi:10.1002/jcu.20409

Cited by 4 publications

(3 citation statements)

References 13 publications

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“…KAZN, a component of the cornified envelope of keratinocytes [35], and the elastase 2A gene, CELA2A, which is involved in skin barrier function and localized in keratohyalin [36]. Returning to the co-mention analysis, interestingly we see that there is one PubMed article that co-mentions all of these phenotypes, for a disorder named Fryns syndrome [37].…”

Section: Plos Geneticsmentioning

confidence: 96%

Phenotype-genotype comorbidity analysis of patients with rare disorders provides insight into their pathological and molecular bases

et al. 2020

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Genetic and molecular analysis of rare disease is made difficult by the small numbers of affected patients. Phenotypic comorbidity analysis can help rectify this by combining information from individuals with similar phenotypes and looking for overlap in terms of shared genes and underlying functional systems. However, few studies have combined comorbidity analysis with genomic data. We present a computational approach that connects patient phenotypes based on phenotypic co-occurence and uses genomic information related to the patient mutations to assign genes to the phenotypes, which are used to detect enriched functional systems. These phenotypes are clustered using network analysis to obtain functionally coherent phenotype clusters. We applied the approach to the DECIPHER database, containing phenotypic and genomic information for thousands of patients with heterogeneous rare disorders and copy number variants. Validity was demonstrated through overlap with known diseases, co-mention within the biomedical literature, semantic similarity measures, and patient cluster membership. These connected pairs formed multiple phenotype clusters, showing functional coherence, and mapped to genes and systems involved in similar pathological processes. Examples include claudin genes from the 22q11 genomic region associated with a cluster of phenotypes related to DiGeorge syndrome and genes related to the GO term anterior/posterior pattern specification associated with abnormal development. The clusters generated can help with the diagnosis of rare diseases, by suggesting additional phenotypes for a given patient and potential underlying functional systems. Other tools to find causal genes based on phenotype were also investigated. The approach has been implemented as a workflow, named PhenCo, which can be adapted to any set of patients for which phenomic and genomic data is available. Full details of the analysis, including the clusters formed, their constituent functional systems and underlying genes are given. Code to implement the workflow is available from GitHub.

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Section: Plos Geneticsmentioning

confidence: 96%

Phenotype-genotype comorbidity analysis of patients with rare disorders provides insight into their pathological and molecular bases

et al. 2020

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“…In particular, distal limb malformations, which seem to be a strong key to the diagnosis when associated with CDH, were not detected in prenatal diagnosis even in a tertiary center. By reviewing the 11 cases of the prenatal diagnosis of FS in the scientific literature, we found that most of them (eight) fell into the atypical group spectrum according to the diagnostic criteria proposed by Lin et al . having only two out of six required criteria based on the prenatal observation.…”

Section: Clinical Features Of the Five Cases In The Present Study Andmentioning

confidence: 99%

“…A very few cases (11) of prenatal diagnosis for FS have been reported since 1988. 1,[11][12][13][14][15][16][17] As far as we can tell, the prenatal phenotype of this condition has never been described in detail, and recent literature is lacking.…”

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confidence: 99%

Prenatal and postnatal findings in five cases of Fryns syndrome

et al. 2014

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What's already known about this topic?Fryns syndrome is characterized by congenital diaphragmatic hernia, facial dysmorphisms, distal digital hypoplasia, and variable cerebral, ocular, cardiovascular, and genitourinary malformations. It is often lethal. No causative gene is known, and the diagnosis is based on clinical findings. Data on prenatal diagnosis are lacking. What does this study add?This study demonstrates that prenatal diagnosis of Fryns syndrome is currently not possible in most cases.This finding has implications for prenatal genetic counseling and in utero treatment of diaphragmatic hernia.

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Fryns Syndrome

2016

Diagnostic Imaging: Obstetrics

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Fryns syndrome: Case report and review of the literature

Cited by 4 publications

References 13 publications

Phenotype-genotype comorbidity analysis of patients with rare disorders provides insight into their pathological and molecular bases

Phenotype-genotype comorbidity analysis of patients with rare disorders provides insight into their pathological and molecular bases

Prenatal and postnatal findings in five cases of Fryns syndrome

Fryns Syndrome

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