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3/2023 vol. 30
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CASE REPORT
Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene – a case report
Gabriela Ręka 1
,
 
Katarzyna Wojciechowska 1
,
 
Monika Lejman 1
 
 
 
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Laboratory of Genetic Diagnostics of the Second Department of Paediatrics, Medical University, Lublin, Poland
 
 
Corresponding author
Gabriela Ręka   

Laboratory of Genetic Diagnostics of the Second Department of Pediatrics, Medical University of Lublin, Lublin, Poland
 
 
Ann Agric Environ Med. 2023;30(3):577-579
DOI: https://doi.org/10.26444/aaem/163063
 
 
Article (PDF)
References (22)
 
KEYWORDS
Wiedemann-Steiner syndrome
KMT2A gene
whole-exome sequencing
 
TOPICS
Health effects of chemical pollutants in agricultural areas , including occupational and non-occupational effects of agricultural chemicals (pesticides, fertilizers) and effects of industrial disposal (heavy metals, sulphur, etc.) contaminating the atmosphere, soil and water
State of the health of rural communities depending on various factors: social factors, accessibility of medical care, etc.
 
ABSTRACT
Introduction:
Wiedemann-Steiner syndrome is caused by mutations in the KMT2A gene (11q23.3). It might be inherited autosomal dominant or appear de novo. Features described in the syndrome include developmental delay, short stature, hypotonia, hypertrichosis, facial dysmorphic features, and intellectual disability.

Case Report:
A boy aged 5.5 months was admitted to the Genetics Outpatient Clinic due to delayed psychomotor development. Microsomia, hypotonia, joint laxity, and facial dysmorphic features were noticed. No genomic imbalance was found in microarray, based on comparative genomic hybridization. The c.3528G>T variant of the KMT2A gene was identified on chromosome 11 of the missense type in next-generation sequencing. The reasons for phenotypic features were confirmed in genetic research.

Conclusions:
Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.

 
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eISSN:1898-2263
ISSN:1232-1966
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