TY - JOUR
T1 - Wiedemann-Steiner syndrome
T2 - Novel pathogenic variant and review of literature
AU - Aggarwal, Anjali
AU - Rodriguez-Buritica, David F.
AU - Northrup, Hope
PY - 2017/6/1
Y1 - 2017/6/1
N2 - Wiedemann-Steiner syndrome (WDSTS) is a very rare genetic disorder characterized by short stature, intellectual disability and distinctive facial appearance. We present a five-year-old boy who was diagnosed with WDSTS based on identification of a novel de novo pathogenic variant in the KMT2A gene (OMIM: 159555) by Whole Exome Sequencing and supported by some characteristic clinical features. Genotype and phenotype of the patient is compared with the earlier reported patients in the literature, in an attempt to broaden our knowledge of this rare syndrome.
AB - Wiedemann-Steiner syndrome (WDSTS) is a very rare genetic disorder characterized by short stature, intellectual disability and distinctive facial appearance. We present a five-year-old boy who was diagnosed with WDSTS based on identification of a novel de novo pathogenic variant in the KMT2A gene (OMIM: 159555) by Whole Exome Sequencing and supported by some characteristic clinical features. Genotype and phenotype of the patient is compared with the earlier reported patients in the literature, in an attempt to broaden our knowledge of this rare syndrome.
KW - KMT2A
KW - Novel pathogenic variant
KW - Wiedemann-Steiner syndrome
UR - http://www.scopus.com/inward/record.url?scp=85017187728&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85017187728&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2017.03.006
DO - 10.1016/j.ejmg.2017.03.006
M3 - Article
C2 - 28359930
AN - SCOPUS:85017187728
SN - 1769-7212
VL - 60
SP - 285
EP - 288
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
IS - 6
ER -