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Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

Overview of attention for article published in Nature Genetics, April 2015
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (89th percentile)
  • Average Attention Score compared to outputs of the same age and source

Mentioned by

news
1 news outlet
twitter
6 X users
facebook
3 Facebook pages
wikipedia
4 Wikipedia pages

Citations

dimensions_citation
176 Dimensions

Readers on

mendeley
112 Mendeley
citeulike
1 CiteULike
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Title
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
Published in
Nature Genetics, April 2015
DOI 10.1038/ng.3282
Pubmed ID
Authors

Fanny Kortüm, Viviana Caputo, Christiane K Bauer, Lorenzo Stella, Andrea Ciolfi, Malik Alawi, Gianfranco Bocchinfuso, Elisabetta Flex, Stefano Paolacci, Maria Lisa Dentici, Paola Grammatico, Georg Christoph Korenke, Vincenzo Leuzzi, David Mowat, Lal D V Nair, Thi Tuyet Mai Nguyen, Patrick Thierry, Susan M White, Bruno Dallapiccola, Antonio Pizzuti, Philippe M Campeau, Marco Tartaglia, Kerstin Kutsche

Abstract

Zimmermann-Laband syndrome (ZLS) is a developmental disorder characterized by facial dysmorphism with gingival enlargement, intellectual disability, hypoplasia or aplasia of nails and terminal phalanges, and hypertrichosis. We report that heterozygous missense mutations in KCNH1 account for a considerable proportion of ZLS. KCNH1 encodes the voltage-gated K(+) channel Eag1 (Kv10.1). Patch-clamp recordings showed strong negative shifts in voltage-dependent activation for all but one KCNH1 channel mutant (Gly469Arg). Coexpression of Gly469Arg with wild-type KCNH1 resulted in heterotetrameric channels with reduced conductance at positive potentials but pronounced conductance at negative potentials. These data support a gain-of-function effect for all ZLS-associated KCNH1 mutants. We also identified a recurrent de novo missense change in ATP6V1B2, encoding the B2 subunit of the multimeric vacuolar H(+) ATPase, in two individuals with ZLS. Structural analysis predicts a perturbing effect of the mutation on complex assembly. Our findings demonstrate that KCNH1 mutations cause ZLS and document genetic heterogeneity for this disorder.

X Demographics

X Demographics

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 112 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Israel 1 <1%
Germany 1 <1%
Luxembourg 1 <1%
Unknown 109 97%

Demographic breakdown

Readers by professional status Count As %
Researcher 22 20%
Student > Ph. D. Student 20 18%
Student > Master 10 9%
Student > Doctoral Student 7 6%
Student > Bachelor 7 6%
Other 22 20%
Unknown 24 21%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 27 24%
Agricultural and Biological Sciences 25 22%
Medicine and Dentistry 16 14%
Neuroscience 8 7%
Physics and Astronomy 2 2%
Other 9 8%
Unknown 25 22%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 16. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 23 April 2022.
All research outputs
#2,014,325
of 23,578,176 outputs
Outputs from Nature Genetics
#2,646
of 7,293 outputs
Outputs of similar age
#26,863
of 266,000 outputs
Outputs of similar age from Nature Genetics
#55
of 89 outputs
Altmetric has tracked 23,578,176 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 91st percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 7,293 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 41.8. This one has gotten more attention than average, scoring higher than 63% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 266,000 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 89% of its contemporaries.
We're also able to compare this research output to 89 others from the same source and published within six weeks on either side of this one. This one is in the 38th percentile – i.e., 38% of its contemporaries scored the same or lower than it.