Publication Details

Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant

SCHWARZ Martin, RYBA Lukáš, KŘEPELOVÁ Anna, MOSLEROVÁ Veronika, ZELINOVÁ Michaela, TURNOVEC Marek, MARTINKOVÁ Júlia, KRATOCHVÍLOVÁ Lenka, DRAHANSKÝ Martin, MACEK Milan and HAVLOVICOVÁ Markéta. Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant. American Journal of Medical Genetics - Part A, vol. 2021, no. 12, pp. 1-5. ISSN 1552-4833. Available from: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62616
Czech title
Zimmermannův-Labandův syndrom u monozygotních dvojčat s mírným neurobehaviorálním fenotypem postrádajícím přerůstání dásní - Kazuistika nové varianty genu KCNN3
Type
journal article
Language
english
Authors
Schwarz Martin (2LFUK)
Ryba Lukáš (2LFUK)
Křepelová Anna (2LFUK)
Moslerová Veronika (2LFUK)
Zelinová Michaela (2LFUK)
Turnovec Marek (2LFUK)
Martinková Júlia (2LFUK)
Kratochvílová Lenka (UHMotol)
Drahanský Martin, prof. Ing., Dipl.-Ing., Ph.D. (DITS FIT BUT)
Macek Milan (2LFUK)
Havlovicová Markéta (2LFUK)
URL
Keywords

channelopathy, gingival fibromatosis, KCNN3, monozygotic twins, ZimmermannLaband syndrome

Abstract

Zimmermann-Laband syndrome is a rare, heterogeneous disorder characterized by gingival hypertrophy or fibromatosis, aplastic/hypoplastic nails, hypoplasia of the distal phalanges, hypertrichosis, various degrees of intellectual disability, and distinctive facial features. Three genes are considered causative for ZLS: KCNH1, KCNN3, and ATP6V1B2. We report on a pair of female concordant monozygotic twins, both carrying a novel pathogenic variant in the KCNN3 gene, identified using exome sequencing. Only six ZLS patients with the KCNN3 pathogenic variant have been reported so far. The twins show facial dysmorphism, hypoplastic distal phalanges, aplasia or hypoplasia of nails, and hypertrichosis. During infancy, they showed mild developmental delays, mainly speech. They successfully completed secondary school education and are socio economically independent. Gingival overgrowth is absent in both individuals. Our patients exhibited an unusually mild phenotype compared to published cases, which is an important diagnostic finding for proper genetic counseling for Zimmermann-Laband syndrome patients and their families.

Published
2021
Pages
1-5
Journal
American Journal of Medical Genetics - Part A, vol. 2021, no. 12, ISSN 1552-4833
Publisher
WILEY
DOI
10.1002/ajmg.a.62616
UT WoS
000730061000001
EID Scopus
2-s2.0-85121313138
BibTeX 
@ARTICLE{FITPUB12663,
   author = "Martin Schwarz and Luk\'{a}\v{s} Ryba and Anna K\v{r}epelov\'{a} and Veronika Moslerov\'{a} and Michaela Zelinov\'{a} and Marek Turnovec and J\'{u}lia Martinkov\'{a} and Lenka Kratochv\'{i}lov\'{a} and Martin Drahansk\'{y} and Milan Macek and Mark\'{e}ta Havlovicov\'{a}",
   title = "Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant",
   pages = "1--5",
   journal = "American Journal of Medical Genetics - Part A",
   volume = 2021,
   number = 12,
   year = 2021,
   ISSN = "1552-4833",
   doi = "10.1002/ajmg.a.62616",
   language = "english",
   url = "https://www.fit.vut.cz/research/publication/12663"
}
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