Abstract
Wiedemann-Steiner syndrome (WWS) is a rare disorder characterized by hypotonia, postnatal growth restriction, striking facial dysmorphism, and hirsutism. It is caused by heterozygous pathogenic variants in KMT2A. This gene has an established role in histone methylation, which explains the overlap of WWS with syndromes caused by genes involved in chromatin remodeling. We describe an infant with a novel single base pair deletion in KMT2A with features consistent with WWS, as well as additional features of stenosis of aqueduct of Sylvius and broad toes. The usefulness of Face2Gene as a tool for identification of dysmorphology syndromes is discussed, as in this patient, it suggested WWS as the top candidate disorder. To the best of our knowledge, this is the first patient of WWS reported from India, with a novel genotype and expanded phenotype.
Keywords:
KMT2A; Face2Gene; Wiedemann-Steiner syndrome; aqueduct stenosis; broad toes.
© 2020 Wiley Periodicals, Inc.
MeSH terms
-
Abnormalities, Multiple / diagnosis
-
Abnormalities, Multiple / epidemiology
-
Abnormalities, Multiple / genetics*
-
Abnormalities, Multiple / physiopathology
-
Contracture / diagnosis
-
Contracture / epidemiology
-
Contracture / genetics*
-
Contracture / physiopathology
-
Facies
-
Female
-
Genotype
-
Growth Disorders / diagnosis
-
Growth Disorders / epidemiology
-
Growth Disorders / genetics*
-
Growth Disorders / physiopathology
-
Heterozygote
-
Histone-Lysine N-Methyltransferase / genetics*
-
Humans
-
India / epidemiology
-
Infant
-
Intellectual Disability / diagnosis
-
Intellectual Disability / epidemiology
-
Intellectual Disability / genetics*
-
Intellectual Disability / physiopathology
-
Male
-
Microcephaly / diagnosis
-
Microcephaly / epidemiology
-
Microcephaly / genetics*
-
Microcephaly / physiopathology
-
Musculoskeletal Abnormalities / diagnosis
-
Musculoskeletal Abnormalities / epidemiology
-
Musculoskeletal Abnormalities / genetics*
-
Musculoskeletal Abnormalities / physiopathology
-
Mutation / genetics
-
Myeloid-Lymphoid Leukemia Protein / genetics*
-
Phenotype
Substances
-
KMT2A protein, human
-
Myeloid-Lymphoid Leukemia Protein
-
Histone-Lysine N-Methyltransferase
Supplementary concepts
-
Growth Deficiency and Mental Retardation with Facial Dysmorphism