Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A de novo TBX3 mutation presenting as dorsalization of the little fingers: A forme fruste phenotype of ulnar-mammary syndrome.
|
30654152 |
2020 |
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Indeed, mutations in the human TBX3 lead to ulnar mammary syndrome which is characterized by several clinical malformations including hypoplasia of the mammary and apocrine glands, defects of the upper limb, areola, dental structures, heart and genitalia.
|
31669645 |
2020 |
Ulnar-mammary syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Haploinsufficiency for TBX3 causes ulnar-mammary syndrome (UMS) in humans, a multi-organ system disorder.
|
30292786 |
2018 |
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ulnar-mammary syndrome (UMS) is characterized by ulnar defects, and nipple or apocrine gland hypoplasia, caused by TBX3 haploinsufficiency.
|
30550377 |
2018 |
Ulnar-mammary syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
This is the first report of a Cypriot family with UMS resulting from a novel TBX3 mutation.
|
28145909 |
2017 |
Ulnar-mammary syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Re-examination of an individual with UMS reveals similar previously unrecognized muscle and bone eminence defects and indicates a conserved role for TBX3 in regulating musculoskeletal development.
|
27491074 |
2016 |
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TBX3 mutations in humans cause complex congenital malformations and Ulnar-mammary syndrome.
|
24675841 |
2014 |
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TBX3 cause ulnar-mammary syndrome (UMS), which is distinguished by upper limb malformations affecting the ulnar ray, apocrine, and mammary gland hypoplasia, and genital defects.
|
24664963 |
2014 |
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ulnar mammary syndrome (UMS), an autosomal dominant disorder caused by mutations in TBX3, underscores the importance of TBX3 in human breast development, while abnormal mammary gland development in Tbx2 or Tbx3 mutant mice provides models for experimental investigation.
|
23624936 |
2013 |
Ulnar-mammary syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The T-box transcription factor, TBX3, plays an important role in embryonic development, and haploinsufficiency of TBX3 causes ulnar-mammary syndrome.
|
24025717 |
2013 |
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our observations with these alleles in mice, and the different types of TBX3 mutations observed in human ulnar-mammary syndrome, suggest that not all mutations observed in humans generate functionally null alleles.
|
23844108 |
2013 |
Ulnar-mammary syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Expression of Tbx1 and Tbx3, the DiGeorge/velo-cardio-facial (DGS) and Ulnar-mammary syndrome (UMS) disease genes, was expanded in miR-17-92 mutant craniofacial structures.
|
24068957 |
2013 |
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TBX3 gene have been associated to ulnar-mammary syndrome with multiple developmental defects, including cardiac defects.
|
23116943 |
2013 |
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TBX3 is critical for human development: mutations in TBX3 cause congenital anomalies in patients with ulnar-mammary syndrome.
|
22203979 |
2012 |
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TBX3 that result in reduced functional protein lead to ulnar-mammary syndrome, a developmental disorder characterized by limb, mammary gland, tooth, and genital abnormalities.
|
22535523 |
2012 |
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
All have similarities in appearance which we suggest could alert clinicians to the possibility of a TBX3 mutation if individuals present with more subtle features of UMS such as postaxial polydactyly, isolated 5th finger anomalies, delayed puberty in males, breast hypoplasia or short stature with or without growth hormone deficiency.
|
21199695 |
2011 |
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TBX3 mediates limb, mammary gland and heart development and, in humans, mutations resulting in haplo-insufficiency of TBX3 lead to ulnar-mammary syndrome.
|
20942798 |
2011 |
Ulnar-mammary syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Mutations resulting in decreased levels of functional TBX3 lead to Ulnar-Mammary Syndrome and increased levels of TBX3 have been linked to several cancers.
|
21784138 |
2011 |
Ulnar-mammary syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
The diagnosis of UMS was confirmed on mutation analysis of TBX3.
|
19938096 |
2009 |
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel TBX3 mutation data in families with ulnar-mammary syndrome indicate a genotype-phenotype relationship: mutations that do not disrupt the T-domain are associated with less severe limb defects.
|
16530712 |
2009 |
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of UMS was confirmed on mutation analysis of TBX3.
|
19938096 |
2009 |
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In humans, mutations in Tbx3 cause ulnar-mammary syndrome.
|
18467625 |
2008 |
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
One of the main features of the UMS phenotype is the severe hypoplasia of the breast, associated with haploinsufficiency of the TBX3 gene product.
|
17265068 |
2007 |
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tbx3 encodes a transcriptional repressor that is important for diverse patterning events during development, and Tbx3 mutation in humans causes the ulnar-mammary syndrome.
|
17283120 |
2007 |
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We suggest that the UMS phenotype in conjunction with the characteristic facial changes and mental retardation observed in our patient is owing to the deletion of TBX3 and the involvement of neighbouring genes.
|
16896345 |
2006 |