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¹H NMR: Complex Splitting01:13

¹H NMR: Complex Splitting

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A proton M that is coupled to a proton X results in doublet signals for M. However, NMR-active nuclei can be simultaneously coupled to more than one nonequivalent nucleus. When M is coupled to a second proton A, such as in styrene oxide, each peak in the doublet is split into another doublet.
Splitting diagrams or splitting tree diagrams are routinely used to depict such complex couplings. While drawing splitting diagrams, the splitting with the larger coupling constant is usually applied...
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'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.

Nuria C Bramswig1, C W Ockeloen2, J C Czeschik3

  • 1Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany. nuria.braemswig@uni-due.de.

Human Genetics
|August 13, 2015
PubMed
Summary
This summary is machine-generated.

Mutations in KCNH1 cause Temple-Baraitser syndrome (TMBTS) and Zimmermann-Laband syndrome (ZLS), with significant variability in symptoms like intellectual disability and nail hypoplasia. This study expands the known KCNH1 mutation spectrum, highlighting broader phenotypic presentation.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Neurology

Background:

  • Temple-Baraitser syndrome (TMBTS) and Zimmermann-Laband syndrome (ZLS) are rare genetic disorders.
  • KCNH1 mutations were recently identified as a cause for both TMBTS and ZLS.
  • These syndromes share features including intellectual disability and dysmorphic characteristics.

Purpose of the Study:

  • To investigate novel KCNH1 mutations in individuals with intellectual disability.
  • To further delineate the phenotypic spectrum associated with KCNH1 mutations.
  • To assess the clinical overlap and variability between TMBTS and ZLS.

Main Methods:

  • Genetic analysis of individuals with intellectual disability from cohorts.
  • Clinical evaluation and phenotypic characterization of mutation-positive individuals.
  • Comparison of clinical features across all published KCNH1 mutation-positive cases.

Main Results:

  • Four new unrelated individuals with de novo KCNH1 mutations were identified.
  • A recurrent pathogenic KCNH1 variant was found in three individuals.
  • Phenotypic variability, particularly in nail hypoplasia, was observed, with some features being mild or developing over time.
  • A consistent facial phenotype but variable limb phenotype was noted across KCNH1 mutation-positive individuals.

Conclusions:

  • KCNH1 mutations are associated with a broader and more variable phenotype than previously recognized.
  • The findings suggest significant overlap between TMBTS and ZLS, challenging distinct classification.
  • KCNH1 mutations represent a significant genetic cause of severe intellectual disability with distinct dysmorphic features.