Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome

@article{Wieland2007ContiguousGD,
  title={Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome},
  author={Ilse Wieland and Christine Weidner and Roberto Ciccone and Elisabetta Lapi and Donna M. McDonald-McGinn and Wolfram Kress and Sibylle Jakubiczka and Hartmut Collmann and Orsetta Zuffardi and Elaine Zackai and Peter F Wieacker},
  journal={Clinical Genetics},
  year={2007},
  volume={72}
}
Craniofrontonasal syndrome (CFNS [MIM 304110]) is an X‐linked malformation syndrome characterized by craniofrontonasal dysplasia and extracranial manifestations in heterozygous females. In the majority of patients CFNS is caused by mutations in the EFNB1 gene (MIM 300035). We identified three girls with classical CFNS and mild developmental delay harboring de novo deletions of the EFNB1 gene. Applying haplotype analysis, Southern blot hybridization and array‐comparative genomic hybridization… 
A Novel de Novo Mutation Within EFNB1 Gene in a Young Girl with Craniofrontonasal Syndrome
TLDR
A novel de novo missense mutation 373G>A was identified within the EFNB1 gene, leading to the replacement of glutamic acid at amino acid position 125 with lysine, which is expected to disrupt the interaction between the Eph receptor and ephrin B1 ligand, thus leading to craniofrontonasal syndrome.
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TLDR
A female patient presenting with severe FND features along with partial alopecia, hypogonadism and intellectual disability is reported on, and comparative genomic hybridization techniques showed a large heterozygous de novo deletion at 11p11.12p12, encompassing the ALX4 gene.
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TLDR
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Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic
TLDR
Expression of EFNB1 mRNA was studied by RT-PCR in fibroblast cultures established from CFNS female patients to suggest differential degradation of mutant EF NB1 transcripts by the nonsense-mediated mRNA decay pathway, further supporting the concept of cellular interference in CFNS.
The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function
TLDR
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Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay
TLDR
EFNB1 mutation is considered for a child with schizencephaly, and further study focusing on phenotyping is required to understand the possible contribution of environmental impact and genetic modifier in the expression of EFNB1.
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References

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TLDR
It is concluded that the major causes of familial as well as sporadic CFNS are loss of function mutations in the EFNB1 gene that comprise premature termination or abrogate receptor‐ligand interaction, oligomerization, and ephrin‐B1 reverse signaling.
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TLDR
It is concluded that mutations in EFNB1 cause CFNS, a X-linked craniofacial disorder with an unusual manifestation pattern, in which affected females show multiple skeletal malformations whereas the genetic defect causes no or only mild abnormalities in male carriers.
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TLDR
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TLDR
A Thai woman with CFNS is reported, in whom a novel mutation was discovered: c.685_686insG, in exon 5 of EFNB1, which is the first insertion and the most 3′ point mutation inEFNB1 reported to date.
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TLDR
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TLDR
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  • Biology, Medicine
    Proceedings of the National Academy of Sciences of the United States of America
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TLDR
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TLDR
A CFNS patient with a novel EFNB1 missense mutation present at the interface betweenEFNB1 and its receptor proteins is reported, inferring that the Ser118Ile mutation may impede the protrusion of the G‐H loop, thereby disturbing Eph–Ephrin signal transduction.
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TLDR
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