CASE REPORT
15q13.2q13.3 microdeletion syndrome with congenital stationary night blindness due to compound deletion and a missense point mutation in TRPM1 gene
1
Department of Medical Genetics, The Children’s Memorial Health Institute, Warszawa, Poland
2
Department of Ophthalmology, Professor Jan Bogdanowicz Children’s Hospital, Warszawa, Poland
3
Warsaw Genomics, Warszawa, Poland
Submission date: 2025-06-27
Final revision date: 2025-08-05
Acceptance date: 2025-08-17
Publication date: 2025-11-19
Corresponding author
Agnieszka Madej-Pilarczyk
Dr. Agnieszka Madej-Pilarczyk, Department of Medical Genetics, The Children’s Memorial Health Institute, Warszawa, Poland
Dr. Agnieszka Madej-Pilarczyk, Department of Medical Genetics, The Children’s Memorial Health Institute, Warszawa, Poland
Pediatr Pol 2025;61(4):394-397
KEYWORDS
TOPICS
ABSTRACT
The 15q13.3 microdeletion syndrome is associated with a variable phenotype, often with incomplete penetrance, characterised by psychomotor developmental delay, intellectual disability, autism spectrum disorders, and nonspecific dysmorphic features. Epilepsy, congenital heart defects, and ophthalmologic abnormalities, including strabismus and/or astigmatism, may also occur. In the case of a homozygous 15q13.3 deletion involving the TRPM1 gene, symptoms of congenital stationary night blindness additionally appear. A similar clinical effect is associated with compound damage to both copies of the TRPM1 gene, in the form of a deletion involving this gene on one allele and a point mutation in TRPM1 on the other allele. We present a patient with a complex 15q13.2q13.3 deletion and a hemizygous TRPM1 variant c.332A>G, p.Tyr111Cys, in whom neurodevelopmental symptoms coexist with congenital stationary night blindness.
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