Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene.
|
30549396 |
2019 |
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To date, 92 different mutations of KMT2A have been curated in the human gene mutation database (HGMD), resulting in Wiedemann-Steiner syndrome (WDSTS) and intellectual disability (ID)/developmental delay (DD).
|
30841869 |
2019 |
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel de novo mutation (p.Pro1310Glnfs*46) in KMT2A caused Wiedemann-Steiner Syndrome in a Chinese boy with postnatal growth retardation: a case report.
|
31250358 |
2019 |
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
0.800 |
Biomarker
|
disease |
BEFREE |
Furthermore, the infant reported here had many of the features seen in Wiedemann-Steiner syndrome which is caused by MLL1 defects.
|
29633245 |
2018 |
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Wiedemann-Steiner syndrome (WDSTS) is a rare genetic disorder characterized by facial gestalt, neurodevelopmental delay, skeletal anomalies and growth retardation, which is caused by variation of KMT2A gene.
|
30305169 |
2018 |
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Up to now, the majority of KMT2A variants are non-sense and frameshift variants causing a typical form of Wiedemann-Steiner syndrome.
|
29203834 |
2018 |
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Among them, heterozygous de novo variants in KMT2A, a gene coding for histone methyltransferase, have been associated with Wiedemann-Steiner syndrome (WSS), a rare developmental disorder mainly characterized by intellectual disability (ID) and hypertrichosis.
|
30014449 |
2018 |
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Exome sequencing analysis of these patients and their parents revealed a de novo nonsense mutation, p.Gln1978*, of KMT2A in the former, and a missense mutation, p.Gly1168Asp, in the latter, which molecularly confirmed the diagnosis of Wiedemann-Steiner syndrome.
|
27777327 |
2017 |
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
0.800 |
Biomarker
|
disease |
BEFREE |
Whole exome sequencing revealed KMT2A-associated Wiedemann-Steiner syndrome in one sibling pair and their mother.
|
28623346 |
2017 |
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We summarized the clinical features of WDSTS associated with KMT2A mutation and discussed the cardinal symptoms in detail.
|
28815892 |
2017 |
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.
|
27441994 |
2017 |
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.
|
27759909 |
2017 |
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.
|
27320412 |
2016 |
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Using whole exome sequencing and comparative genome hybridization array, we identified a de novo MLL/KMT2A gene nonsense mutation which explains the WDSTS phenotype.
|
26544196 |
2015 |
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome.
|
25929198 |
2015 |
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
|
25724810 |
2015 |
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Extensive clinical evaluation and WES of 32 Turkish patients clinically diagnosed with CdLS revealed the presence of a de novo heterozygous nonsense KMT2A mutation in 1 patient without characteristic WDSTS features.
|
25574841 |
2015 |
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.
|
25294932 |
2014 |
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.
|
24886118 |
2014 |
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL).
|
24818805 |
2014 |
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
De novo mutations in MLL cause Wiedemann-Steiner syndrome.
|
22795537 |
2012 |
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
De novo mutations in MLL cause Wiedemann-Steiner syndrome.
|
22795537 |
2012 |
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|