LIG4 Syndrome
|
0.990 |
GeneticVariation
|
disease |
CLINVAR |
Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.
|
27855655 |
2016 |
LIG4 Syndrome
|
0.990 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing.
|
27537055 |
2016 |
LIG4 Syndrome
|
0.990 |
CausalMutation
|
disease |
CLINVAR |
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.
|
27612988 |
2016 |
LIG4 Syndrome
|
0.990 |
CausalMutation
|
disease |
CLINVAR |
Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.
|
27063650 |
2016 |
LIG4 Syndrome
|
0.990 |
CausalMutation
|
disease |
CLINVAR |
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.
|
25239263 |
2015 |
LIG4 Syndrome
|
0.990 |
Biomarker
|
disease |
BEFREE |
The diagnosis of LIG4 syndrome was confirmed by delayed DNA double-strand break repair kinetics in γ-irradiated fibroblasts from the patient and their restoration by an introduction of wild-type LIG4.
|
26172957 |
2015 |
LIG4 Syndrome
|
0.990 |
CausalMutation
|
disease |
CLINVAR |
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.
|
24892279 |
2014 |
LIG4 Syndrome
|
0.990 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NHEJ genes, defining human syndromes deficient in DNA ligase IV (LIG4 Syndrome), XLF-Cernunnos, Artemis or DNA-PKcs, have been identified in such patients.
|
24629483 |
2014 |
LIG4 Syndrome
|
0.990 |
CausalMutation
|
disease |
CLINVAR |
Extreme growth failure is a common presentation of ligase IV deficiency.
|
24123394 |
2014 |
LIG4 Syndrome
|
0.990 |
CausalMutation
|
disease |
CLINVAR |
Identification of the DNA repair defects in a case of Dubowitz syndrome.
|
23372718 |
2013 |
LIG4 Syndrome
|
0.990 |
GermlineCausalMutation
|
disease |
ORPHANET |
Identification of the DNA repair defects in a case of Dubowitz syndrome.
|
23372718 |
2013 |
LIG4 Syndrome
|
0.990 |
CausalMutation
|
disease |
CLINVAR |
Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities.
|
24027040 |
2013 |
LIG4 Syndrome
|
0.990 |
Biomarker
|
disease |
BEFREE |
Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).
|
22373003 |
2012 |
LIG4 Syndrome
|
0.990 |
Biomarker
|
disease |
MGD |
These findings highlight the importance of LIG4 in lymphocyte development and function, and in genomic stability maintenance, and provide a model for the complex phenotype of LIG4 syndrome in humans.
|
20133615 |
2010 |
LIG4 Syndrome
|
0.990 |
Biomarker
|
disease |
BEFREE |
These findings highlight the importance of LIG4 in lymphocyte development and function, and in genomic stability maintenance, and provide a model for the complex phenotype of LIG4 syndrome in humans.
|
20133615 |
2010 |
LIG4 Syndrome
|
0.990 |
Biomarker
|
disease |
BEFREE |
DNA ligase IV deficiency syndrome (LIG4 syndrome) is a rare autosomal recessive disorder characterized by microcephaly, growth retardation, low birth weight, dysmorphic facial findings, immunodeficiency, pancytopenia, and radiosensitivity due to impaired repair of DNA double-strand breaks by non-homologous end-joining.
|
19418549 |
2009 |
LIG4 Syndrome
|
0.990 |
GeneticVariation
|
disease |
BEFREE |
The Lig4(Y288C) mouse, identified by means of a mutagenesis screening programme, is a mouse model for human LIG4 syndrome, showing immunodeficiency and growth retardation.
|
17554302 |
2007 |
LIG4 Syndrome
|
0.990 |
Biomarker
|
disease |
MGD |
The Lig4(Y288C) mouse, identified by means of a mutagenesis screening programme, is a mouse model for human LIG4 syndrome, showing immunodeficiency and growth retardation.
|
17554302 |
2007 |
LIG4 Syndrome
|
0.990 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
To date, LIG4 mutations have only been described in a radiosensitive leukemia patient and in 4 patients with a designated LIG4 syndrome, which is associated with chromosomal instability, pancytopenia, and developmental and growth delay.
|
16357942 |
2006 |
LIG4 Syndrome
|
0.990 |
GeneticVariation
|
disease |
BEFREE |
To date, LIG4 mutations have only been described in a radiosensitive leukemia patient and in 4 patients with a designated LIG4 syndrome, which is associated with chromosomal instability, pancytopenia, and developmental and growth delay.
|
16357942 |
2006 |
LIG4 Syndrome
|
0.990 |
CausalMutation
|
disease |
CLINVAR |
A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
|
16088910 |
2005 |
LIG4 Syndrome
|
0.990 |
GeneticVariation
|
disease |
BEFREE |
LIG4 syndrome is conferred by hypomorphic mutations in DNA ligase IV, an essential component of DNA non-homologous end-joining (NHEJ), and is associated with pancytopaenia, developmental and growth delay and dysmorphic facial features.
|
15279811 |
2005 |
LIG4 Syndrome
|
0.990 |
CausalMutation
|
disease |
CLINVAR |
Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms.
|
15333585 |
2004 |
LIG4 Syndrome
|
0.990 |
GeneticVariation
|
disease |
BEFREE |
Analysis of additional mutational changes in LIG4 syndrome (R580X, R814X and G469E) have led to the identification of a nuclear localization signal in DNA ligase IV and sites impacting upon DNA ligase IV adenylation.
|
15333585 |
2004 |
LIG4 Syndrome
|
0.990 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
|
11779494 |
2001 |