|
Focal Dermal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Focal dermal hypoplasia (FDH) is a rare genetic disorder caused by mutations in the PORCN gene located on the X chromosome.
|
30693654 |
2019 |
|
Focal Dermal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
FDH is caused by heterozygous mutations in the PORCN gene located at Xp11.23, and 90% of individuals with FDH are females.
|
29525789 |
2018 |
|
Focal Dermal Hypoplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Goltz syndrome and PORCN: A view from Europe.
|
26799923 |
2016 |
|
Focal Dermal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Focal dermal hypoplasia (FDH) or Goltz Syndrome (OMIM# 305600) is an X-linked dominant ectodermal dysplasia caused by mutations in the PORCN gene.
|
26843121 |
2016 |
|
Focal Dermal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Focal dermal hypoplasia (FDH) is a rare genetic disorder caused by mutations in the PORCN gene located on the X-chromosome.
|
27001925 |
2016 |
|
Focal Dermal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Goltz syndrome, caused by mutations in PORCN, is an X-linked dominant ectodermal dysplasia which is also known as focal dermal hypoplasia.
|
26858134 |
2016 |
|
Focal Dermal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Classic clinical features include patchy hypoplastic skin, split hand/foot deformities, and ocular manifestations.FDH is caused by PORCN gene mutations.
|
26834080 |
2016 |
|
Focal Dermal Hypoplasia
|
1.000 |
Biomarker
|
disease |
MGD |
Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis.
|
25451153 |
2015 |
|
Focal Dermal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This represents the first finding of a PORCN variant in non-mosaic males affected with Goltz-Gorlin syndrome.
|
25026905 |
2015 |
|
Focal Dermal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We present a boy with a phenotype consistent with Goltz syndrome with low-level mosaicism for a novel mutation in PORCN from peripheral blood (c.956dupA; p.Asn320GlufsX99).
|
25040319 |
2014 |
|
Focal Dermal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fibroblasts from individuals with focal dermal hypoplasia (FDH), a rare genetic syndrome caused by mutations in the essential WNT processing enzyme PORCN, fail to reprogram with standard methods.
|
25464842 |
2014 |
|
Focal Dermal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In humans, mutations in PORCN cause the X-linked dominant syndrome Focal Dermal Hypoplasia (FDH, OMIM#305600).
|
24223895 |
2013 |
|
Focal Dermal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the PORCN gene were identified as the molecular basis of FDH.
|
23399492 |
2013 |
|
Focal Dermal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.
|
23696273 |
2013 |
|
Focal Dermal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia.
|
22250236 |
2012 |
|
Focal Dermal Hypoplasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Since features of FDH overlap with those seen in mouse Wnt pathway mutants, FDH likely results from defective Wnt signaling but molecular mechanisms by which inactivation of PORCN affects Wnt signaling and manifestations of FDH remain to be elucidated.
|
22412863 |
2012 |
|
Focal Dermal Hypoplasia
|
1.000 |
Biomarker
|
disease |
MGD |
Since features of FDH overlap with those seen in mouse Wnt pathway mutants, FDH likely results from defective Wnt signaling but molecular mechanisms by which inactivation of PORCN affects Wnt signaling and manifestations of FDH remain to be elucidated.
|
22412863 |
2012 |
|
Focal Dermal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The clinical diagnosis Goltz-Gorlin syndrome was confirmed molecularly by a point mutation in PORCN (c.727C>T).
|
21484999 |
2011 |
|
Focal Dermal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We sequenced the PORCN gene in different tissues from a boy with symptoms of FDH.
|
20626533 |
2011 |
|
Focal Dermal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
At present, the database contains 106 variants, representing 68 different mutations, scattered along the whole coding sequence of the PORCN gene, and 12 large gene rearrangements, which brings up to 80 the number of unique mutations identified in Goltz-Gorlin syndrome patients.
|
21472892 |
2011 |
|
Focal Dermal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Drosophila porcupine gene is required for secretion of wingless and other Wnt proteins, and sporadic mutations in its unique human ortholog, PORCN, cause a pleiotropic X-linked dominant disorder, focal dermal hypoplasia (FDH, also known as Goltz syndrome).
|
21768372 |
2011 |
|
Focal Dermal Hypoplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
In 2007, we implemented a PORCN gene sequencing test for individuals with a clinical diagnosis of FDH.
|
20854095 |
2010 |
|
Focal Dermal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In 2007, mutations in the PORCN gene were found to be causative in Goltz-Gorlin syndrome.
|
19586929 |
2009 |
|
Focal Dermal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular characterization of the PORCN mutations in cases diagnosed as Goltz syndrome is particularly relevant for genetic counseling of patients and their families since no functional diagnostic test is available and carriers of the mutation might otherwise be overlooked due to considerable phenotypic variability associated with the mosaic status.
|
19309688 |
2009 |
|
Focal Dermal Hypoplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In 2007, mutations in the PORCN gene were found to be causative in Goltz-Gorlin syndrome.
|
19586929 |
2009 |