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View article: EP11.19: Prenatal ultrasound features of COQ9 deficiency
EP11.19: Prenatal ultrasound features of COQ9 deficiency Open
A 20-year-old nulliparous woman was seen in Fetal Medicine at 13 weeks of gestation. She and her partner were in a consanguineous union (first cousins) and carriers of Beta Thalassemia. Chorionic Villus Sampling demonstrated a normal qfPCR…
View article: Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis
Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis Open
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive neurodegenerative disease, usually caused by biallelic AAGGG repeat expansions in RFC1. In this study, we leveraged whole genome sequencing …
View article: Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia Open
Improvements in functional genomic annotation have led to a critical mass of neurogenetic discoveries. This is exemplified in hereditary ataxia, a heterogeneous group of disorders characterised by incoordination from cerebellar dysfunction…
View article: Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia Open
We found that SPTAN1 is a genetic cause of neurodevelopmental disorder, which we classified into 3 distinct subgroups. The first comprises developmental epileptic encephalopathy. The second group exhibits milder phenotypes of developmental…
View article: An ancestral 10-bp repeat expansion in <i>VWA1</i> causes recessive hereditary motor neuropathy
An ancestral 10-bp repeat expansion in <i>VWA1</i> causes recessive hereditary motor neuropathy Open
The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that interacts with perle…
View article: Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum Open
Biallelic mutations in SNORD118 , encoding the small nucleolar RNA U8, cause leukoencephalopathy with calcifications and cysts (LCC). Given the difficulty in interpreting the functional consequences of variants in nonprotein encoding genes…
View article: A clinical scoring system for congenital contractural arachnodactyly
A clinical scoring system for congenital contractural arachnodactyly Open
Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder manifesting joint contractures, arachnodactyly, crumpled ears, and kyphoscoliosis as main features. Due to its rarity, rather aspecific clinic…
View article: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans Open
Several strands of evidence question the dogma that human mitochondrial DNA (mtDNA) is inherited exclusively down the maternal line, most recently in three families where several individuals harbored a ‘heteroplasmic haplotype’ consistent …
View article: Delineation of dominant and recessive forms of <i>LZTR1</i>‐associated Noonan syndrome
Delineation of dominant and recessive forms of <i>LZTR1</i>‐associated Noonan syndrome Open
Noonan syndrome (NS) is characterised by distinctive facial features, heart defects, variable degrees of intellectual disability and other phenotypic manifestations. Although the mode of inheritance is typically dominant, recent studies in…
View article: De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder Open
Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identification of a distinct syndrome due to de novo or inherited heterozygous mutations in Tousle…