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Fanny Kortüm
University of Hamburg
MicrocephalyGeneticsIntellectual disabilityMissense mutationBiology
33Publications
10H-index
697Citations
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Publications 32
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#1Le XuH-Index: 36
#2Frederike L. HarmsH-Index: 4
Last. Gerhard MeissnerH-Index: 63
view all 9 authors...
Abstract Ryanodine receptor ion channels (RyR1s) release Ca2+ ions from the sarcoplasmic reticulum to regulate skeletal muscle contraction. By whole-exome sequencing, we identified the heterozygous RYR1 variant c.14767_14772del resulting in the in-frame deletion p.(Phe4923_Phe4924del) in two brothers with a lethal form of the fetal akinesia deformation syndrome (FADS). The two deleted phenylalanines (RyR1-Δ4923FF4924) are located in the S6 pore-lining helix of RyR1. Clinical features in one of t...
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#1Ender Karaca (BCM: Baylor College of Medicine)H-Index: 20
#2Jennifer E. Posey (BCM: Baylor College of Medicine)H-Index: 12
Last. James R. LupskiH-Index: 117
view all 15 authors...
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#1Alexej Knaus (University Hospital Bonn)H-Index: 5
#2Fanny Kortüm (UHH: University of Hamburg)H-Index: 10
Last. Peter M. Krawitz (University Hospital Bonn)H-Index: 2
view all 13 authors...
The glycosylphosphatidylinositol (GPI) anchor links over 150 proteins to the cell surface and is present on every cell type. Many of these proteins play crucial roles in neuronal development and function. Mutations in 18 of the 29 genes implicated in the biosynthesis of the GPI anchor have been identified as the cause of GPI biosynthesis deficiencies (GPIBDs) in humans. GPIBDs are associated with intellectual disability and seizures as their cardinal features. An essential component of the GPI t...
1 CitationsSource
#1Christiane K. Bauer (UHH: University of Hamburg)H-Index: 22
#2Pauline E. Schneeberger (UHH: University of Hamburg)
Last. Kerstin Kutsche (UHH: University of Hamburg)H-Index: 32
view all 11 authors...
Zimmermann-Laband syndrome (ZLS) is characterized by coarse facial features with gingival enlargement, intellectual disability (ID), hypertrichosis, and hypoplasia or aplasia of nails and terminal phalanges. De novo missense mutations in KCNH1 and KCNK4, encoding K+ channels, have been identified in subjects with ZLS and ZLS-like phenotype, respectively. We report de novo missense variants in KCNN3 in three individuals with typical clinical features of ZLS. KCNN3 (SK3/KCa2.3) constitutes one of ...
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#1Rosalind Verheije (CUA: The Catholic University of America)H-Index: 1
#2G. Kupchik (Maimonides Medical Center)H-Index: 4
Last. Jeroen Breckpot (CUA: The Catholic University of America)H-Index: 21
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Deletions on chromosome 15q14 are a known chromosomal cause of cleft palate, typically co-occurring with intellectual disability, facial dysmorphism, and congenital heart defects. The identification of patients with loss-of-function variants in MEIS2, a gene within this deletion, suggests that these features are attributed to haploinsufficiency of MEIS2. To further delineate the phenotypic spectrum of the MEIS2-related syndrome, we collected 23 previously unreported patients with either a de nov...
1 CitationsSource
#1Frederike L. Harms (UHH: University of Hamburg)H-Index: 4
#2Sheela Nampoothiri (AIMS: Amrita Institute of Medical Sciences and Research Centre)H-Index: 17
Last. Kerstin Kutsche (UHH: University of Hamburg)H-Index: 32
view all 9 authors...
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#1Jessika Johannsen (UHH: University of Hamburg)H-Index: 6
#2Fanny Kortüm (UHH: University of Hamburg)H-Index: 10
Last. René Santer (UHH: University of Hamburg)H-Index: 26
view all 7 authors...
The human WWOX (WW domain-containing oxidoreductase) gene, originally known as a tumor suppressor gene, has been shown to be important for brain function and development. In recent years, mutations in WWOX have been associated with a wide phenotypic spectrum of autosomal recessively inherited neurodevelopmental disorders. Whole exome sequencing was completed followed by Sanger sequencing to verify segregation of the identified variants. Functional WWOX analysis was performed in fibroblasts of on...
4 CitationsSource
#1Fanny Kortüm (UHH: University of Hamburg)H-Index: 10
#2Rami Abou Jamra (Leipzig University)H-Index: 27
Last. Kerstin Kutsche (UHH: University of Hamburg)H-Index: 32
view all 18 authors...
Pontocerebellar hypoplasia (PCH) represents a group of autosomal-recessive progressive neurodegenerative disorders of prenatal onset. Eleven PCH subtypes are classified according to clinical, neuroimaging and genetic findings. Individuals with PCH type 9 (PCH9) have a unique combination of postnatal microcephaly, hypoplastic cerebellum and pons, and hypoplastic or absent corpus callosum. PCH9 is caused by biallelic variants in AMPD2 encoding adenosine monophosphate deaminase 2; however, a homozy...
4 CitationsSource
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