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Case report
15q13.2q13.3 microdeletion syndrome with congenital stationary night blindness due to compound deletion and a missense point mutation in TRPM1 gene
Justyna Pietrasik
1
,
Marlena Młynek
1
,
Agata Wiśniewska
2
,
Danuta Sielska-Rotblum
1
,
Magdalena Białecka
1
,
Marta Kotlarek-Łysakowska
3
,
Krystyna Chrzanowska
1
,
Agnieszka Madej-Pilarczyk
1
Pediatr Pol 2025; 100 (4)
Online publish date: 2025/11/19
Article file
- 15q13.2q13.3 microdeletion.pdf
[0.50 MB]
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1. Van Bon BW, Mefford HC, de Vries BB, Schaaf CP. 15q13.3 recurrent deletion. GeneReviews 2010 (last update November 17, 2022). 2.
Hoppman-Chaney N, Wain K, Seger PR, Superneau DW, Hodge JC. Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype. Clin Genet 2013; 83: 345-351. 3.
Lepichon JB, Bittel DC, Graf WD, Yu S. A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes. Am J Med Genet A 2010; 152A: 1300-1304. 4.
Shinawi M, Schaaf CP, Bhatt SS, Xia Z, Patel A, Cheung SW, et al. A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nat Genet 2009; 41: 1269-1271. 5.
Prasun P, Hankerd M, Kristofice M, Scussel L, Sivaswamy L, Ebrahim S. Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay. Am J Med Genet A 2014; 164A: 1815-1820. 6.
Liao J, DeWard SJ, Madan-Khetarpal S, Surti U, Hu J. A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features. Am J Med Genet A 2011; 155A: 2795-2800. 7.
Sharp AJ, Mefford HC, Li K, Skinner C, Stevenson RE, Schroer RJ, et al. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet 2008; 40: 322-328. 8.
Ziats MN, Goin-Kochel RP, Berry LN, Ali M, Ge J, Guffey D, et al. The complex behavioral phenotype of 15q13.3 microdeletion syndrome. Genet Med 2016; 11: 1111-1118. 9.
Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand- Saïd S, et al. TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet 2009; 85: 720-729. 10.
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Iosifidis C, Liu J, Gale T, Ellingford JM, Campbell C, Ingram S, et al. Clinical and genetic findings in TRPM1-related congenital stationary night blindness. Acta Ophthalmol 2022; 100: e1332-e1339. 13.
Kabanarou SA, Holder GE, Fitzke FW, Bird AC, Webster AR. Congenital stationary night blindness and a “Schubert-Bornschein” type electrophysiology in a family with dominant inheritance. Br J Ophthalmol 2004; 88: 1018-1022. 14.
Langrová H, Gamer D, Friedburg C, Besch D, Zrenner E, Apfelstedt-Sylla E. Abnormalities of the long flash ERG in congenital stationary night blindness of the Schubert-Bornschein type. Vision Res 2002; 11: 1475-1483. 15.
Delle Fave M, Cordonnier M, Vallee L, Condroyer C, Zeitz C, Balikova I. Congenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in TRPM1. Ophthalmic Genet 2021; 42: 296-299.
Copyright: © 2025 Polish Society of Paediatrics. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License (http://creativecommons.org/licenses/by-nc-sa/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
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