Karin Schäferhoff
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View article: A single center experience of prenatal parent‐fetus trio exome sequencing for pregnancies with congenital anomalies
A single center experience of prenatal parent‐fetus trio exome sequencing for pregnancies with congenital anomalies Open
Objectives To examine the diagnostic yield of trio exome sequencing in fetuses with multiple structural defects with no pathogenic findings in cytogenetic and microarray analyses. Methods We recruited 51 fetuses with two or more defects, n…
View article: A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability
A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability Open
Variants in MFSD8 can cause neuronal ceroid lipofuscinoses (NCLs) as well as nonsyndromic retinopathy. The mutation spectrum includes mainly missense and stop variants, but splice sites and frameshift variants have also been reported. To d…
View article: Biallelic Loss‐of‐Function <scp><i>NDUFA12</i></scp> Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy
Biallelic Loss‐of‐Function <span><i>NDUFA12</i></span> Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy Open
Background Biallelic loss‐of‐function NDUFA12 variants have hitherto been linked to mitochondrial complex I deficiency presenting with heterogeneous clinical and radiological features in nine cases only. Objectives To fully characterize, b…
View article: Mutations at a split codon in the GTPase-encoding domain of <i>OPA1</i> cause dominant optic atrophy through different molecular mechanisms
Mutations at a split codon in the GTPase-encoding domain of <i>OPA1</i> cause dominant optic atrophy through different molecular mechanisms Open
Exonic (i.e. coding) variants in genes associated with disease can exert pathogenic effects both at the protein and mRNA level, either by altering the amino acid sequence or by affecting pre-mRNA splicing. The latter is often neglected due…
View article: Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa
Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa Open
In this retrospective, longitudinal, observational cohort study, we investigated the phenotypic and genotypic features of retinitis pigmentosa associated with variants in the PDE6B gene. Patients underwent clinical examination and genetic …
View article: Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant
Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant Open
We present a long-term follow-up in autosomal dominant gyrate atrophy-like choroidal dystrophy (adGALCD) and propose a possible genotype/phenotype correlation. Ophthalmic examination of six patients from two families revealed confluent are…
View article: Pre‐ and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature
Pre‐ and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature Open
Recombinant chromosome 8 (Rec8) syndrome (San Luis Valley [SLV] syndrome; OMIM #179613) is a rare chromosome disorder associated with intellectual disability, congenital heart defects, variable skeletal and urogenital anomalies, and dysmor…
View article: Novel HIVEP2 Variants in Patients with Intellectual Disability
Novel HIVEP2 Variants in Patients with Intellectual Disability Open
Intellectual disability (ID) occurs in approximately 1% of the population. Over the last years, broad sequencing approaches such as whole exome sequencing (WES) substantially contributed to the definition of the molecular defects underlyin…
View article: Transcriptional response of <i>Escherichia coli</i> to ammonia and glucose fluctuations
Transcriptional response of <i>Escherichia coli</i> to ammonia and glucose fluctuations Open
Summary In large‐scale production processes, metabolic control is typically achieved by limited supply of essential nutrients such as glucose or ammonia. With increasing bioreactor dimensions, microbial producers such as Escherichia coli a…
View article: Specific and Novel microRNAs Are Regulated as Response to Fungal Infection in Human Dendritic Cells
Specific and Novel microRNAs Are Regulated as Response to Fungal Infection in Human Dendritic Cells Open
Within the last two decades, the incidence of invasive fungal infections has been significantly increased. They are characterized by high mortality rates and are often caused by Candida albicans and Aspergillus fumigatus. The increasing nu…
View article: Uniparental disomy of chromosome 16 unmasks recessive mutations of <i>FA2H</i> /SPG35 in 4 families
Uniparental disomy of chromosome 16 unmasks recessive mutations of <i>FA2H</i> /SPG35 in 4 families Open
UPD has rarely been described as causative mechanism in neurodegenerative diseases. Of note, we identified this mode of inheritance in 4 families with the rare diagnosis of spastic paraplegia type 35 (SPG35). Since UPD seems to be a releva…