Detail publikace

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

SCHWARZ, M. RYBA, L. KŘEPELOVÁ, A. MOSLEROVÁ, V. ZELINOVÁ, M. TURNOVEC, M. MARTINKOVÁ, J. KRATOCHVÍLOVÁ, L. DRAHANSKÝ, M. MACEK, M. HAVLOVICOVÁ, M.

Originální název

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

Typ

článek v časopise ve Web of Science, Jimp

Jazyk

angličtina

Originální abstrakt

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.

Klíčová slova

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

Autoři

SCHWARZ, M.; RYBA, L.; KŘEPELOVÁ, A.; MOSLEROVÁ, V.; ZELINOVÁ, M.; TURNOVEC, M.; MARTINKOVÁ, J.; KRATOCHVÍLOVÁ, L.; DRAHANSKÝ, M.; MACEK, M.; HAVLOVICOVÁ, M.

Vydáno

18. 12. 2021

ISSN

1552-4833

Periodikum

American Journal of Medical Genetics, Part A

Ročník

2021

Číslo

12

Stát

Spojené státy americké

Strany od

1

Strany do

5

Strany počet

5

URL

https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62616

BibTex

@article{BUT176372,
  author="SCHWARZ, M. and RYBA, L. and KŘEPELOVÁ, A. and MOSLEROVÁ, V. and ZELINOVÁ, M. and TURNOVEC, M. and MARTINKOVÁ, J. and KRATOCHVÍLOVÁ, L. and DRAHANSKÝ, M. and MACEK, M. and HAVLOVICOVÁ, M.",
  title="Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant",
  journal="American Journal of Medical Genetics, Part A",
  year="2021",
  volume="2021",
  number="12",
  pages="1--5",
  doi="10.1002/ajmg.a.62616",
  issn="1552-4833",
  url="https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62616"
}