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Open AccessEvaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
Biallelic variants in OGDHL, encoding part of the α-ketoglutarate dehydrogenase complex, have been associated with highly heterogeneous neurological and neurodevelopmental disorders. However, the validity of this...
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Article
Open AccessPersonalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation
Following the diagnosis of a paediatric disorder caused by an apparently de novo mutation, a recurrence risk of 1–2% is frequently quoted due to the possibility of parental germline mosaicism; but for any spec...
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Article
Open AccessNovel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan
The cartilage aggrecan proteoglycan is crucial for both skeletal growth and articular cartilage function. A number of aggrecan (ACAN) gene variants have been linked to skeletal disorders, ranging from short statu...
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Article
Open AccessMaintenance Intravenous Immunoglobulin Treatment for Multiple Sclerosis Coexisting with Ehlers-Danlos Syndrome and Muir-Torre Syndrome: A Case Study
The therapeutic options for disease modification in relapsing-remitting multiple sclerosis (RRMS) have expanded remarkably in the last 15 years. Although intravenous immunoglobulins (IVIg) have shown some ther...
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Open AccessCorrection to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
It was highlighted that the original article [1] contained a typographical error in the Results section. Subject 17 was incorrectly cited as Subject 1. This Correction article shows the revised statement. The ...
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Open AccessDe novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
Neurodevelopmental disorders are genetically and phenotypically heterogeneous encompassing developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), structural brain abnormaliti...
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Open AccessErratum: Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition
Correction to: British Journal of Cancer (2018) 118, 266–276; doi:10.1038/bjc.2017.429; published online 04 January 2018 The authors would like to acknowledge the following information for this manuscript: Chr...
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Open AccessProstate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition
Prostate-specific antigen (PSA) and PSA-velocity (PSAV) have been used to identify men at risk of prostate cancer (PrCa). The IMPACT study is evaluating PSA screening in men with a known genetic predisposition...
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Article
Approach to the Diagnosis of Overgrowth Syndromes
Overgrowth syndromes comprise a group of disorders associated with excessive growth and other features such as facial dysmorphism, developmental delay or intellectual disability, congenital anomalies, neurolog...
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Fetal MRI demonstrating vein of Galen malformations in two successive pregnancies—a previously unreported occurrence
Vein of Galen malformations are rare and are usually detected in utero using ultrasonography. No definite genetic predisposition has been described in the literature. We present a case with two successive preg...
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Open AccessEXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations
Pontocerebellar hypoplasia (PCH) represents a group of neurodegenerative disorders with prenatal onset. Eight subtypes have been described thus far (PCH1-8) based on clinical and genetic features. Common chara...
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Article
Open AccessA novel recurrent mutation in ATP1A3 causes CAPOS syndrome
We undertook genetic analysis of three affected families to identify the cause of dominantly-inherited CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss) syndrome.
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Roger E. Stevenson, Charles E. Schwartz, and R. Curtis Rogers: Atlas of X-linked intellectual disability syndromes, 2nd edition
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Open AccessBrittle cornea syndrome: recognition, molecular diagnosis and management
Brittle cornea syndrome (BCS) is an autosomal recessive disorder characterised by extreme corneal thinning and fragility. Corneal rupture can therefore occur either spontaneously or following minimal trauma in...
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Extreme hypernatraemia, breast-feeding and red skin
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Central osteosclerosis with trichothiodystrophy
Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder associated with defects in nucleotide excision repair. We report a 7-year-old boy with TTD due to mutation in the XPD gene. The patie...
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Article
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. Filamin A, encoded by the gene FLNA, is a widely expressed protein that regulates re-organization of the actin cytoskeleton...
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A profile of childhood neurocysticercosis
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Sex ratio and infant mortality rate
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Prophylaxis of febrile convulsions—Is it indicated?
