Abstract
Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder characterized by growth retardation, facial dysmorphism, hypertrichosis cubiti and neurodevelopment delay. It is caused by pathogenic variants in the KMT2A gene. This report describes two unrelated Portuguese patients, age 11 and 17 years, with a phenotype concordant with WSS and clinical and molecular diagnosis of WSS by the identification of two novel frameshift variants in the KMT2A gene. This work also highlights the presence of certain clinical features in patients with growth retardation and development delay and should draw attention to the diagnosis of WSS, when hirsutism, particularly hypertrichosis cubiti is present.
Keywords:
KMT2A gene; autosomal dominant inheritance; development delay; growth retardation.
© 2019 Wiley Periodicals, Inc.
MeSH terms
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Abnormalities, Multiple / diagnosis
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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / pathology
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Adolescent
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Child
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Contracture / diagnosis
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Contracture / genetics*
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Contracture / pathology
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Facies
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Female
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Growth Disorders / diagnosis
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Growth Disorders / epidemiology
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Growth Disorders / genetics*
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Growth Disorders / pathology
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High-Throughput Nucleotide Sequencing
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Histone-Lysine N-Methyltransferase / genetics*
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Humans
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Hypertrichosis / congenital
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Hypertrichosis / epidemiology
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Hypertrichosis / genetics
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Hypertrichosis / pathology
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Intellectual Disability / diagnosis
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Intellectual Disability / genetics*
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Intellectual Disability / pathology
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Male
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Microcephaly / diagnosis
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Microcephaly / genetics*
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Microcephaly / pathology
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Mutation / genetics
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Myeloid-Lymphoid Leukemia Protein / genetics*
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Neurodevelopmental Disorders / genetics*
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Portugal / epidemiology
Substances
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KMT2A protein, human
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Myeloid-Lymphoid Leukemia Protein
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Histone-Lysine N-Methyltransferase
Supplementary concepts
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Growth Deficiency and Mental Retardation with Facial Dysmorphism
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Hairy elbows