Summary

Back to summary

Editorial
Political news
Scientific news
And also...

Share:

Edition of 31 January 2022

New Syndromes

VPS50 mutations cause a neurodevelopmental disorder with neonatal cholestasis

A new study published in Brain identified mono and biallelic variants in the gene coding for VPS50, VPS51 or VPS53, three subunits of membrane-tethering heterotetramers located at the trans-Golgi network (more specifically in GARP) and recycling endosomes (more specifically in EARP). Two unrelated individuals express severe developmental delay, postnatal microcephaly, corpus callosum hypoplasia, seizures and irritability, transient neonatal cholestasis and failure to thrive. Various analysis (light and transmission electron microscopy of liver from one patient, and patient-derived fibroblasts from both patients) underscore the importance of VPS50 and/or the EARP complex in endocytic recycling and suggest an additional function in establishing cell polarity and trafficking. Individuals with biallelic variants in VPS50, VPS51 or VPS53 show an overarching neurodegenerative disorder. The term ‘GARP/EARP deficiency’ designates disorders in such individuals.

Brain . 2021 Nov 29;144(10):3036-3049

RNF220 mutations cause laminopathies featuring leukodystrophy, ataxia and deafness

A new study published in Brain identified in two homozygous missense variants (p.R363Q and p.R365Q) coding for RNF220 (an ubiquitin E3 ligase), within seven consanguineous families who express a novel form of leukodystrophy with ataxia and sensorineural deafness (that includes fibrotic cardiomyopathy and hepatopathy as associated features). Complementary researches (mass spectrometry, and fly model) revealed that RNF220 plays a crucial role in the maintenance of nuclear morphology (and more specifically in the regulation of nuclear lamina), and provide further evidence on the direct link between nuclear lamina dysfunction and neurodegeneration.

Brain . 2021 Nov 29;144(10):3020-3035

RNF213 mutations associated with a new spectrum syndrome of MMD (moyamoya disease), with congenital kidney, skin, and liver pathology

A new study published in the American Journal of Medical Genetics identified heterozygous, de novo C-terminal missense variants in RNF213, a gene coding for a protein of unknown function believed to play a role in cellular metabolism and angiogenesis. Two children (from unrelated families) express moyamoya disease (a mendelian disease), in association with kidney disease, elevated aminotransferases, and recurrent skin lesions. The cases also suggest a new, multi-organ RNF213-spectrum disease (mendelian disease + genetic susceptibility).

Am J Med Genet A . 2021 Jul;185(7):2168-2174

New Genes

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

To read more about “Noonan syndrome”

Orphanet J Rare Dis . 2021 Nov 22;16(1):488

A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity

To read more about “Early infantile epileptic encephalopathy”

Orphanet J Rare Dis . 2021 Jul 17;16(1):317

DIAPH1 Variants in Non-East Asian Patients with Sporadic Moyamoya Disease

To read more about “Moyamoya disease”

JAMA Neurol . 2021 Aug 1;78(8):993-1003

Clinical Research

Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort

To read more about “Laminin subunit alpha 2-related muscular dystrophy”

Orphanet J Rare Dis . 2021 Jul 19;16(1):319

Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis

To read more about “Lafora disease”

Orphanet J Rare Dis . 2021 Aug 16;16(1):362

New insight into the features of Behçet’s disease with gastrointestinal ulcer: a cross-sectional observational study

To read more about “Behçet disease”

Orphanet J Rare Dis . 2021 Oct 21;16(1):444

Clinical features of lupus enteritis: a single-center retrospective study

To read more about “Systemic lupus erythematosus”

Orphanet J Rare Dis . 2021 Sep 26;16(1):396

Endophenotypical drift in Huntington’s disease: a 5-year follow-up study

To read more about “Huntington disease”

Orphanet J Rare Dis . 2021 Aug 3;16(1):340

Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease

To read more about “Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy”

Neurology . 2021 Oct 26;97(17):e1727-e1736

Optic pathway glioma and the sex association in neurofibromatosis type 1 : a single ‑ center study

To read more about “Neurofibromatosis type 1”

Orphanet J Rare Dis . 2021 Nov 22;16(1):489

Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases.

Orphanet J Rare Dis . 2021 Nov 4;16(1):469

A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A

To read more about “Charcot-Marie-Tooth disease type 1A”

Orphanet J Rare Dis . 2021 Oct 16;16(1):433

Effect of Camrelizumab vs Placebo Added to Chemotherapy on Survival and Progression-Free Survival in Patients with Advanced or Metastatic Esophageal Squamous Cell Carcinoma: The ESCORT-1st Randomized Clinical Trial

To read more about “Squamous cell carcinoma of the esophagus”

JAMA . 2021 Sep 14;326(10):916-925

Psychometric evaluation of the Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF) in a phase 2 clinical study

To read more about “Indolent systemic mastocytosis”

Orphanet J Rare Dis . 2021 Oct 18;16(1):434

Healthcare needs, expectations, utilization, and experienced treatment effects in patients with hereditary spastic paraplegia: a web-based survey in the Netherlands

To read more about “Hereditary spastic paraplegia”

Orphanet J Rare Dis . 2021 Jun 24;16(1):283

Preventive use of nitisinone in alkaptonuria

To read more about “Alkaptonuria”

Orphanet J Rare Dis . 2021 Aug 3;16(1):343

Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial

To read more about “Methylmalonic acidemia with homocystinuria”
To read more about “Methylmalonic acidemia without homocystinuria”
To read more about “Propionic acidemia”

Orphanet J Rare Dis . 2021 Oct 11;16(1):422

Haploidentical haematopoietic stem cell transplantation for malignant infantile osteopetrosis and intermediate osteopetrosis: a retrospective analysis of a single centre

To read more about “Autosomal recessive malignant osteopetrosis”
To read more about “Intermediate osteopetrosis”

Orphanet J Rare Dis . 2021 Jul 15;16(1):314

Gene therapy for spinal muscular atrophy: the Qatari experience

To read more about “Proximal spinal muscular atrophy”

Gene Ther . 2021 Nov;28(10-11):676-680

Modifiable factors affecting renal preservation in type I glycogen storage disease after liver transplantation: a single-center propensity-match cohort study

To read more about “Glycogen storage disease due to glucose-6-phosphatase deficiency”

Factor VIII replacement prophylaxis in patients with hemophilia A transitioning to adults: a systematic literature review

To read more about “Hemophilia A”

Orphanet J Rare Dis . 2021 Jun 26;16(1):287

Development of symptom-focused outcome measures for advanced and indolent systemic mastocytosis: the AdvSM-SAF and ISM-SAF©

To read more about “Indolent systemic mastocytosis”

Orphanet J Rare Dis . 2021 Oct 9;16(1):414

Cannabinoid use and effects in patients with epidermolysis bullosa: an international cross-sectional survey study

To read more about “Dystrophic epidermolysis bullosa”
To read more about “Epidermolysis bullosa simplex”
To read more about “Junctional epidermolysis bullosa”

Orphanet J Rare Dis . 2021 Sep 6;16(1):377

Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy

To read more about “Proximal spinal muscular atrophy”

Orphanet J Rare Dis . 2021 Jul 28;16(1):330

Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith–Magenis syndrome: protocol for a series of N-of-1 trials

To read more about “Smith-Magenis syndrome”

Orphanet J Rare Dis . 2021 Sep 8;16(1):380

Impact of low-dose calcipotriol ointment on wound healing, pruritus and pain in patients with dystrophic epidermolysis bullosa: A randomized, double-blind, placebo-controlled trial

To read more about “Dystrophic epidermolysis bullosa”

Orphanet J Rare Dis . 2021 Nov 8;16(1):473

Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series

To read more about “Hereditary hemorrhagic telangiectasia”

Orphanet J Rare Dis . 2021 Oct 19;16(1):438

Health care transition for patients with vascular malformations: a French multicenter cross-sectional study

Orphanet J Rare Dis . 2021 Aug 6;16(1):352

Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy

To read more about “Glycogen storage disease due to acid maltase deficiency, infantile onset”

Orphanet J Rare Dis . 2021 Aug 5;16(1):348

Retrospective study on growth in infants with isolated Robin sequence treated with the Tuebingen Palate Plate

To read more about “Isolated Pierre Robin syndrome”

Orphanet J Rare Dis . 2021 Aug 3;16(1):338

Clinical outcomes of laminoplasty for patients with lysosomal storage disease including mucopolysaccharidosis and mucolipidoses: a retrospective cohort study

To read more about “Mucopolysaccharidosis”
To read more about “Mucolipidosis”

Orphanet J Rare Dis . 2021 Sep 28;16(1):401

Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey

To read more about “Homozygous familial hypercholesterolemia”

Orphanet J Rare Dis . 2021 Sep 8;16(1):381

Predictors of heart failure symptoms in hereditary hemorrhagic telangiectasia patients with hepatic arteriovenous malformations

To read more about “ereditary hemorrhagic telangiectasia”

Orphanet J Rare Dis . 2021 Nov 18;16(1):478

The development of early social cognitive skills in neurogenetic syndromes associated with autism: Cornelia de Lange, fragile X and Rubinstein-Taybi syndromes.

To read more about “Cornelia de Lange syndrome”
To read more about “Rubinstein-Taybi syndrome”
To read more about “Fragile X syndrome”

Orphanet J Rare Dis . 2021 Nov 22;16(1):488

Eat, breathe, sleep with Osteogenesis Imperfecta

To read more about “Osteogenesis imperfecta”

Orphanet J Rare Dis . 2021 Oct 18;16(1):435

Biomarkers

Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease

To read more about “Fabry disease”

Orphanet J Rare Dis . 2021 Nov 20;16(1):485

Quantitative parameters of lymphocyte nuclear morphology in bronchoalveolar lavage fluid as novel biomarkers for sarcoidosis

To read more about “Sarcoidosis”

Orphanet J Rare Dis . 2021 Jul 3;16(1):298

Increased levels of serum interleukin-10 are associated with poor outcome in adult hemophagocytic lymphohistiocytosis patients

To read more about “Hemophagocytic syndrome”

Orphanet J Rare Dis . 2021 Aug 4;16(1):347

Diagnostic Approaches

Age at and indication for diagnosis of Turner syndrome in the pediatric population

To read more about “Turner syndrome”

Am J Med Genet A . 2021 Nov;185(11):3411-3417

Genetic syndromes screening by facial recognition technology: VGG-16 screening model construction and evaluation

Orphanet J Rare Dis . 2021 Aug 3;16(1):344

NeoSeq: a new method of genomic sequencing for newborn screening

Orphanet J Rare Dis . 2021 Nov 18;16(1):481

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

To read more about “Primary bone dysplasia”

Orphanet J Rare Dis . 2021 Oct 9;16(1):412

Therapeutic Approaches

Engineered microRNA-based regulatory element permits safe high-dose mini MECP2 gene therapy in Rett mice

To read more about “Rett syndrome”

Brain . 2021 Nov 29;144(10):3005-3019

AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy

To read more about “X-linked Charcot-Marie-Tooth disease type 1”

Gene Ther . 2021 Nov;28(10-11):659-675

In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy

To read more about “Intrahepatic cholestasis of pregnancy”

Orphanet J Rare Dis . 2021 Nov 18;16(1):484

SREBP2 gene therapy targeting striatal astrocytes ameliorates Huntington’s disease phenotypes

To read more about “Huntington disease”

Brain . 2021 Nov 29;144(10):3175-3190

Patient Management and Therapy

Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities

To read more about “Spondylometaphyseal dysplasia, Sedaghatian type”

Orphanet J Rare Dis . 2021 Oct 23;16(1):446

Lumasiran: expanding the treatment options for patients with primary hyperoxaluria type 1

To read more about “Primary hyperoxaluria type 1”

Expert Opinion on Orphan Drugs Volume 9, 2021 - Issue 7-10

Cholbam® and Zellweger spectrum disorders: treatment implementation and management

To read more about “Zellweger syndrome”

Orphanet J Rare Dis . 2021 Sep 14;16(1):388

Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management

To read more about “Turner syndrome”

Eur J Med Genet . 2021 Mar;64(3):104140

Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism

To read more about “Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency”

Orphanet J Rare Dis . 2021 Nov 4;16(1):467

Hemophagocytic lymphohistiocytosis during pregnancy: a review of the literature in epidemiology, pathogenesis, diagnosis and treatment

To read more about “Hemophagocytic syndrome”

Orphanet J Rare Dis . 2021 Jun 21;16(1):281

Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety

Orphanet J Rare Dis . 2021 Jul 3;16(1):295

Trichothiodystrophy (TTD): A rare disease of Dermatology

To read more about “Prader-Willi syndrome”

The Gulf J. of Derm. & Vener. (2021) 28(2)

Recommendations

French recommendations for the management of Takayasu’s arteritis

To read more about “Takayasu arteritis”

Orphanet J Rare Dis . 2021 Jul 21;16(Suppl 3):311

Physiotherapy for epidermolysis bullosa: clinical practice guidelines

To read more about “Epidermolysis bullosa simplex”

Orphanet J Rare Dis . 2021 Sep 30;16(1):406

International consensus on clinical severity scale use in evaluating Niemann–Pick disease Type C in paediatric and adult patients: results from a Delphi Study

To read more about “Niemann-Pick disease type C”

Orphanet J Rare Dis . 2021 Nov 18;16(1):482

Italian national consensus statement on management and pharmacological treatment of phenylketonuria

To read more about “Phenylketonuria”

Orphanet J Rare Dis . 2021 Nov 16;16(1):476

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Genet Med . 2021 Nov;23(11):2029-2037

Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study

To read more about “Cerebrotendinous xanthomatosis”

Orphanet J Rare Dis . 2021 Aug 6;16(1):353

French recommendations for the management of systemic sclerosis

To read more about “Systemic sclerosis”

Orphanet J Rare Dis . 2021 Jul 26;16(Suppl 2):322

The first European consensus on principles of management for achondroplasia

To read more about “Achondroplasia”

Orphanet J Rare Dis . 2021 Jul 31;16(1):333

Epidemiology

The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy

Orphanet J Rare Dis . 2021 Sep 4;16(1):374

Prevalence of fibrodysplasia ossificans progressiva (FOP) in the United States: estimate from three treatment centers and a patient organization

To read more about “Fibrodysplasia ossificans progressiva”

Orphanet J Rare Dis . 2021 Aug 5;16(1):350

A comparison of two studies and the prevalence and sex ratio of Neurodevelopmental conditions in Tuberous Sclerosis Complex

To read more about “Tuberous sclerosis complex”

Orphanet J Rare Dis . 2021 Aug 18;16(1):366

Epidemiological investigation of hemophagocytic lymphohistiocytosis in China

To read more about “Hemophagocytic syndrome”

Orphanet J Rare Dis . 2021 Aug 3;16(1):342

A population-based study to estimate survival and standardized mortality of tuberous sclerosis complex (TSC) in Taiwan

To read more about “Tuberous sclerosis complex”

Orphanet J Rare Dis . 2021 Aug 3;16(1):335

Quality of Life

Williams syndrome: on the role of intellectual abilities in anxiety

To read more about “Barth syndrome”

Orphanet J Rare Dis . 2021 Sep 29;16(1):404

Anxiety and depression in school-age patients with spinal muscular atrophy: a cross-sectional study

To read more about “Proximal spinal muscular atrophy”

Orphanet J Rare Dis . 2021 Sep 9;16(1):385

Williams syndrome: on the role of intellectual abilities in anxiety

To read more about “Williams syndrome”

Orphanet J Rare Dis . 2021 Nov 7;16(1):472

The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease

To read more about “Fabry disease”

Orphanet J Rare Dis . 2021 Oct 12;16(1):427

The patient experience of Wilson disease: a conceptual model based on qualitative research

To read more about “Wilson disease”

Orphanet J Rare Dis . 2021 Oct 19;16(1):437

A rare disease patient-reported outcome measure: revision and validation of the German version of the Systemic Sclerosis Quality of Life Questionnaire (SScQoL) using the Rasch model

To read more about “Systemic sclerosis”

Orphanet J Rare Dis . 2021 Aug 9;16(1):356

Executive functions and quality of life in children with neurofibromatosis type 1

To read more about “Neurofibromatosis type 1”

Orphanet J Rare Dis . 2021 Oct 9;16(1):420

Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

To read more about “Mucopolysaccharidosis type 4A”

Orphanet J Rare Dis . 2021 Nov 3;16(1):464

Impact of glycogen storage disease type I on adult daily life: a survey

To read more about “Glycogen storage disease due to glucose-6-phosphatase deficiency”

Orphanet J Rare Dis . 2021 Sep 3;16(1):371

Norm-based comparison of the quality-of-life impact of ravulizumab and eculizumab in paroxysmal nocturnal hemoglobinuria

To read more about “Paroxysmal nocturnal hemoglobinuria”

Orphanet J Rare Dis . 2021 Sep 15;16(1):389

Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients

To read more about “Isolated Pierre Robin syndrome”

Orphanet J Rare Dis . 2021 Oct 20;16(1):442

Summary of the edition of 31 January 2022

Editorial
Political news
Scientific news
And also...