@Article{Pietrasik2025,
journal="Pediatria Polska - Polish Journal of Paediatrics",
issn="0031-3939",
volume="100",
number="4",
year="2025",
title="15q13.2q13.3 microdeletion syndrome with congenital stationary night blindness due to compound deletion and a missense point mutation in TRPM1 gene",
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.",
author="Pietrasik, Justyna
and Młynek, Marlena
and Wiśniewska, Agata
and Sielska-Rotblum, Danuta
and Białecka, Magdalena
and Kotlarek-Łysakowska, Marta
and Chrzanowska, Krystyna
and Madej-Pilarczyk, Agnieszka",
pages="394--397",
doi="10.5114/polp.2025.156306",
url="http://dx.doi.org/10.5114/polp.2025.156306"
}