Cited by 69Craniofacial Disorders and TreatmentsFetal and Pediatric Neurological DisordersGenomics and Rare Diseases

Clinical and genetic aspects of craniofrontonasal syndrome: Towards resolving a genetic paradox

Wieacker, Peter, Wieland, Ilse·2005·Molecular Genetics and Metabolism

Abstract

Craniofrontonasal syndrome (CFNS) is characterized by body asymmetry, midline defects, skeletal abnormalities, and dermatological abnormalities. It is a very peculiar X-linked syndrome because females are affected whereas male carriers show no or only mild abnormalities. Using a combination of positional approach and candidate gene strategy the EFNB1 gene in Xq12 was identified as the major causative gene of this condition. So far, 46 EFNB1 mutations have been detected in CFNS patients. The majority of the mutations lead to premature termination codons. Because the encoded protein ephrin-B1 is involved in migration of neural crest cells we propose that CFNS is a novel type of neurocrestopathy. The absent or mild phenotype in male carriers may be explained by the promiscuity of the ephrin ligand/receptor system. The more severe manifestation in females may be explained by cellular interference that is caused by the combination of ephrin ligand/receptor promiscuity and the consequences of random X inactivation in distinct cellular compartments.

Integrity signals

Registry

Crossref · 10.1016/j.ymgme.2005.07.017

Cites

45 of 45 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • Causative mutations in EFNB1 confer loss of function and are diverse (whole gene deletions, intragenic nonsense and frameshifting and splice site mutations, and missense substitutions), providing an explanation for the paradoxical inheritance pattern.

    “The identification of causative mutations in EFNB1, which confer loss of function and are correspondingly diverse (whole gene deletions, intragenic nonsense and frameshifting and splice site mutations, and missense substitutions; Figure 2d) (refs.31,32), has provided an explanation for the paradoxical inheritance pattern.”

    From Craniosynostosis (2011) · cites this paper as [31]

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Authors
Wieacker, P., & Wieland, I.
Affiliations
Otto-von-Guericke-Universität Magdeburg (DE)
Corresponding author
Wieacker, Peter
Venue
Molecular Genetics and Metabolism
Publisher
Elsevier BV
Published
2005-09
Volume
86
Issue
1-2
Pages
110-116
ISSN
1096-7192 (ISSN-L)
OpenAlex
W2023943103
Cited by
69
References
45
Citations by year
2026: 1 · 2025: 2 · 2024: 1 · 2023: 2 · 2022: 4 · 2021: 5 · 2020: 3 · 2019: 3 · 2018: 5 · 2017: 2 · 2016: 2 · 2015: 5 · 2014: 2 · 2013: 9 · 2012: 1
FWCI
1.97
Type
journal article
Language
en
Open access
closed
Locations
  • Molecular Genetics and Metabolism (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords
craniofrontonasal syndrome, ephrin-B1, X-linked inheritance, sex differences in phenotype, neural crest migration, X chromosome inactivation, premature stop codon, body asymmetry, midline defects, candidate gene identification
MeSH terms
Abnormalities, Multiple, Female, Humans, Male, Mutation, Nose, Skull, Syndrome, Signal Transduction, Receptors, Eph Family

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review