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Article
Targeted next-generation sequencing analysis in Italian patients with keratoconus
To report variants in 26 candidate genes and describe the clinical features of Italian patients with keratoconus (KC).
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Article
Open AccessA novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts
This report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. The presen...
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Article
Open AccessOptimization of long-range PCR protocol to prepare filaggrin exon 3 libraries for PacBio long-read sequencing
The filaggrin (FLG) protein, encoded by the FLG gene, is an intermediate filament-associated protein that plays a crucial role in the terminal stages of human epidermal differentiation. Loss-of-function mutations...
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Reference Work Entry In depth
Gene Variants Involved in the Etiopathogenesis of Eating Disorders: Neuropeptides, Neurotransmitters, Hormones, and Their Receptors
Eating disorders have a deep social, mental, and physical impact and multifactorial origins, but the strong genetic component is universally corroborated. Genetic factors account for approximately 56–84% of li...
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Article
A next generation sequencing gene panel for use in the diagnosis of anorexia nervosa
The aim of this study was to increase knowledge of genes associated with anorexia nervosa (AN) and their diagnostic offer, using a next generation sequencing (NGS) panel for the identification of genetic varia...
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Article
Open AccessGenetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy
Two-hundred and thirty-four Italian patients with a clinical diagnosis of macular, cone and cone-rod dystrophies (MD, CD, and CRD) were examined using next-generation sequencing (NGS) and gene sequencing panel...
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Article
A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome
Cooks syndrome (CS) is an ultrarare limb malformation due to in tandem microduplications involving KCNJ2 and extending to the 5′ regulatory element of SOX9. To date, six CS families were resolved at the molecular...
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Living Reference Work Entry In depth
Gene Variants Involved in the Etiopathogenesis of Eating Disorders: Neuropeptides, Neurotransmitters, Hormones, and Their Receptors
Eating disorders have a deep social, mental, and physical impact and multifactorial origins, but the strong genetic component is universally corroborated. Genetic factors account for approximately 56–84% of li...
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Article
Open AccessThe transcriptome profile of human trisomy 21 blood cells
Trisomy 21 (T21) is a genetic alteration characterised by the presence of an extra full or partial human chromosome 21 (Hsa21) leading to Down syndrome (DS), the most common form of intellectual disability (ID...
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Article
Open AccessPotential role of microbiome in Chronic Fatigue Syndrome/Myalgic Encephalomyelits (CFS/ME)
Chronic Fatigue Syndrome/Myalgic Encephalomyelitis (CFS/ME) is a severe multisystemic disease characterized by immunological abnormalities and dysfunction of energy metabolism. Recent evidences suggest strong ...
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Article
Immunophenotypical characterization of paraneoplastic neurological syndrome patients: a multicentric study
Paraneoplastic neurological syndromes (PNS) are a group of rare and severe immune-mediated disorders that affect the nervous system in patients with cancer. The best way to diagnose a paraneoplastic neurologic...
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Article
Open AccessA very early diagnosis of Alstrӧm syndrome by next generation sequencing
Alström syndrome is a rare recessively inherited disorder caused by variants in the ALMS1 gene. It is characterized by multiple organ dysfunction, including cone-rod retinal dystrophy, dilated cardiomyopathy, hea...
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Article
Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder
Glutaric aciduria type I (GA1; OMIM #231670) is an autosomal recessively inherited and treatable disorder characterized by the accumulation and irregular excretion of glutaric acid due to a defect in the gluta...
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Article
Open AccessPathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology
Best vitelliform macular dystrophy (BVMD) is an autosomal dominant macular degeneration. The typical central yellowish yolk-like lesion usually appears in childhood and gradually worsens. Most cases are caused...
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Article
Open AccessMutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study
Bardet–Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. There is currently no treatment for BBS, but some morbidities can be m...
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Article
Open AccessSwept source optical coherence tomography and optical coherence tomography angiography in pediatric enhanced S-cone syndrome: a case report
Enhanced S-cone syndrome is an autosomal recessive retinal dystrophy related to a defect in a nuclear receptor gene (NR2E3) that leads to alteration in cells development from rod to S-cone. This retinal dystrophy...
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Article
Open AccessComparison of 5-year progression of retinitis pigmentosa involving the posterior pole among siblings by means of SD-OCT: a retrospective study
The aim of this study is to analyze and compare the progression of photoreceptor atrophy among siblings affected by retinitis pigmentosa by means of spectral SD-OCT.
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Article
NAD metabolism in HPRT-deficient mice
The activity of hypoxanthine-guanine phosphoribosyltransferase (HPRT) is virtually absent in Lesch-Nyhan disease (LND), an X-linked genetic disorder characterized by uric acid accumulation and neurodevelopment...
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Article
Physical exercise to prevent multifactorial diseases: a warning written in our genes?
The human genome has about forty thousand genes and has been subject to strong selective pressure in various periods and different geographical areas. Various evidence sustains the hypothesis that the widespre...
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Article
Open AccessReal-Time PCR and Linkage Studies to Identify Carriers Presenting HPRT Deleted Gene
Lesch-Nyhan syndrome (LNS) is an X-linked genetic disorder resulting in hyperuricemia, choreoathetosis, mental retardation, and self-injurious behavior. It is caused by loss of activity of the ubiquitous enzym...
