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

Autor: Martin Schwarz, Lukáš Ryba, Anna Křepelová, Veronika Moslerová, Michaela Zelinová, Marek Turnovec, Júlia Martinková, Lenka Kratochvílová, Martin Drahanský, Milan Macek, Markéta Havlovicová
Rok vydání: 2021
Předmět:
Zdroj: American Journal of Medical Genetics Part A. 188:1083-1087
ISSN: 1552-4833
1552-4825
DOI: 10.1002/ajmg.a.62616
Popis: 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.
Databáze: OpenAIRE
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