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Article
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders
Exome sequencing (ES) has become the method of choice for diagnosing rare diseases, while the availability of short-read genome sequencing (SR-GS) in a medical setting is increasing. In addition, new sequencin...
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Article
Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia
Childhood-onset schizophrenia (COS) is a rare and severe form of schizophrenia defined as onset before age of 13. Here we report on two unrelated cases diagnosed with both COS and alternating hemiplegia of chi...
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Article
Open AccessRare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic component whose knowledge evolves quickly. Next-generation sequencing is the only effective technology to deal with the hig...
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Article
Open AccessMosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas
The contribution of mosaic alterations to tumors of the nervous system and to non-malignant neurological diseases has been unmasked thanks to the development of Next Generation Sequencing (NGS) technologies. W...
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Article
Nephrotic syndrome and mitochondrial disorders: answers
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Nephrotic syndrome and mitochondrial disorders: Questions
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Article
Morphological features in juvenile Huntington disease associated with cerebellar atrophy — magnetic resonance imaging morphometric analysis
The imaging features of Huntington disease are well known in adults, unlike in juvenile-onset Huntington disease.
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Article
RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann–Steiner Syndrome
A growing number of histone modifiers are involved in human neurodevelopmental disorders, suggesting that proper regulation of chromatin state is essential for the development of the central nervous system. Am...
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Article
Open AccessHydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene
Congenital hydrocephalus is considered as either acquired due to haemorrhage, infection or neoplasia or as of developmental nature and is divided into two subgroups, communicating and obstructive. Congenital h...
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Article
Open AccessX-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
By moving essential body fluids and molecules, motile cilia and flagella govern respiratory mucociliary clearance, laterality determination and the transport of gametes and cerebrospinal fluid. Primary ciliary...
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Article
Open AccessExpanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations
Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by u...
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Article
Open AccessNatural history of Barth syndrome: a national cohort study of 22 patients
This study describes the natural history of Barth syndrome (BTHS).
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Article
Open AccessScreening for primary creatine deficiencies in French patients with unexplained neurological symptoms
A population of patients with unexplained neurological symptoms from six major French university hospitals was screened over a 28-month period for primary creatine disorder (PCD). Urine guanidinoacetate (GAA) ...
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Article
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy
Josseline Kaplan, Jean-Michel Rozet and colleagues show that biallelic mutations in NMNAT1 cause an autosomal recessive form of Leber congenital amaurosis characterized by early-onset severe macular atrophy and o...
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Article
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans
Andrea Ventura and colleagues report germline hemizygous deletions in the miR-17~92 cluster in individuals with features overlap** Feingold syndrome. Mice with targeted deletions in miR17~92 also display gro...
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Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype
Neuronal migration disorders account for a substantial number of cortical malformations, the most severe forms being represented by lissencephalies. Classical lissencephaly has been shown to result from mutati...
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Article
Respiratory chain deficiency presenting as congenital nephrotic syndrome
Nephrotic syndrome (NS) in infancy includes NS of Finnish type (mutation of the nephrin gene), diffuse mesangial sclerosis (idiopathic or linked to WT1 mutation), idiopathic NS, most often steroid resistant, and ...
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Article
Genoty** microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt −1) in the NDUFS4 gene in Leigh syndrome
Complex I deficiency, the most common cause of mitochondrial disorders, accounts for a variety of clinical symptoms and its genetic heterogeneity makes identification of the disease genes particularly tedious....
