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Edition of 26 July 2023

New Syndromes

Monoallelic CYP26B1 mutation causes a syndromic craniosynostosis due to haploinsufficiency ?

A new study published in the European Journal of Medical Genetics identified a mono-allelic variant in CYP26B1, within two related individuals of Asian-Indian origin with syndromic craniosynostosis characterised by craniosynostosis, and dysplastic radial heads. The authors think it is an autosomal dominant variant, where usually autosomal recessive variants are linked to these kinds of signs.

To read more about “Syndromic craniosynostosis”

Eur J Med Genet . 2023 Jul;66(7):104772

ZNT7 mutations causes stunted growth, testicular hypoplasia, and bone marrow failure?

A new study published in Human Molecular Genetics identified bi-allelic variants in ZNT7 (a gene known to be implied in zinc deficiency within mice model), within two-boy siblings from a French family with stunted growth, testicular hypoplasia, and bone marrow failure. The authors think it is the cause (and dietary zinc deficiency results in similar symptoms).

Hum Mol Genet . 2023 Jun 5;32(12):2016-2031

Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt

A new study published in the American Journal of Human Genetics identified four patients with (de novo) chromosomal region 1p36.3 microtriplications of variable size, but with a strong phenotypic overlap, which is severe (contrary to inherited 1p36.3 duplications). Theses variations demonstrates the reduced reproductive fitness associated with this genotype (once compared to inherited duplications), and imply four disease-related genes, of which GABRD and SKI are most likely to contribute to the phenotype.

Am J Med Genet A . 2023 Jul;191(7):1889-1899

DCAF13 mutations implicated in a neuromuscular disorder in humans

A new study published in the European Journal of Human Genetics identified bi-allelic variants in DCAF13, within four patients of a consanguineous family in which multiple patients had a neuromuscular disorder characterized by a waddling gait, limb deformities, muscular weakness and facial palsy. Unaffected individuals present monoallelic variants. The authors think the change in WD40 domain contained in DCAF13 may decrease protein stability.

Eur J Hum Genet . 2023 Jun;31(6):629-637

New Genes

OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

To read more about “Oculo-auriculo-vertebral spectrum”

J Med Genet . 2023 Jun;60(6):620-626

Syndromic craniosynostosis: De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling

To read more about “Syndromic craniosynostosis”

Am J Hum Genet . 2023 May 4;110(5):846-862

Pontocerebellar hypoplasia associated with p.Arg183Trp homozygous variant in EXOSC1 gene: A case report

To read more about “Pontocerebellar hypoplasia type 1”

Am J Med Genet A . 2023 Jul;191(7):1923-1928

Male infertility with oligoasthenoteratozoospermia (with acrosomal hypoplasia and reduced progressive motility): Bi-allelic human TEKT3 mutations

To read more about “Male infertility with teratozoospermia due to single gene mutation”

Hum Mol Genet . 2023 May 5;32(10):1730-1740

Pheochromocytoma-paraganglioma: Somatic IDH1 Hotspot Variants in Chinese Patients

To read more about “Pheochromocytoma-paraganglioma”

J Clin Endocrinol Metab . 2023 Apr 13;108(5):1215-1223

Clinical Research

Cartilage-hair hypoplasia : Oral findings.. a cross-sectional observational study

To read more about “Cartilage-hair hypoplasia”

Orphanet J Rare Dis . 2023 Jun 12;18(1):147

GMB (Glioblastoma), Primary Spinal : Natural Course and Prognosis .. a Nationwide Study

To read more about “Glioblastoma”

Neurology . 2023 Apr 4;100(14):e1497-e1509

CPAM (Congenital pulmonary airway malformation) : Neonatality & Impact of prenatal estimation of the risk of respiratory distress on the choice of delivery site

To read more about “Congenital pulmonary airway malformation”

Arch Pediatr . 2023 May;30(4):195-200

ET & PV (Essenatial thrombocythemia & Polycythemia vera) : Rate of recurrent thromboembolic event... a population based cohort study

To read more about “Essenatial thrombocythemia”
To read more about “Polycythemia vera”

Eur J Haematol . 2023 Jun;110(6):608-617

AHA (Autoimmune hemolytic anemia): Pregnancy & Puerperium... an International Multi-Center Experience

To read more about “Autoimmune hemolytic anemia”

Blood . 2023 Apr 20;141(16):2016-2021

Multiple myeloma : Survival outcomes in France... a retrospective cohort study using the Système National des Données de Santé national healthcare database

To read more about “Multiple myeloma”

Eur J Haematol . 2023 Jul;111(1):125-134

PKU & mHPA (Phenylketonuria & Mild hyperphenylalaninemia), moderate : Preschool children & Executive functions... a prospective study

To read more about “Phenylketonuria”
To read more about “Mild hyperphenylalaninemia”

Orphanet J Rare Dis . 2023 Jul 3;18(1):175

Takayasu arteritis & Giant cell arteritis : Longitudinal Characterization of Vascular Inflammation and Disease Activity ... a single-center prospective study

To read more about “Takayasu arteritis”
To read more about “Giant cell arteritis”

Arthritis Care Res (Hoboken) . 2023 Jun;75(6):1362-1370

GPA (Granulomatosis with polyangiitis) & Microscopic Polyangiitis: Remission and Low-Disease Activity.. Prevalence and Impact on Damage Accrual

To read more about “Granulomatosis with polyangiitis”

Arthritis Care Res (Hoboken) . 2023 May;75(5):1158-1165

Wilson disease : "Things out of the norm"... a qualitative study of patient and physician experiences, and management in the US

To read more about “Wilson disease”

Orphanet J Rare Dis . 2023 Jun 22;18(1):158

DLBCL (Diffuse large B-cell lymphoma), extra-nodal : Response rates to anti-CD19-CAR T cells... a real word retrospective multicenter study

To read more about “Diffuse large B-cell lymphoma”

Eur J Haematol . 2023 Jul;111(1):63-71

Hemophilia (A or B), severe : Phase 3, Fitusiran prophylaxis, without inhibitors (ATLAS-A/B, a multicentre, open-label, randomised trial)

To read more about “Hemophilia”

Lancet Haematol . 2023 May;10(5):e322-e332

Prader-Willi syndrome : Phase 3, Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress (CARE-PWS Trial)

To read more about “Prader-Willi syndrome”

J Clin Endocrinol Metab . 2023 Jun 16;108(7):1696-170

Rett syndrome : Phase 3, Trofinetide (randomnized)

To read more about “Rett syndrome”

Nat Med . 2023 Jun;29(6):1468-1475

B-CLL (B-cell chronic lymphocytic leukemia), previously untreated : Phase 3, "Ibrutinib + rituximab" VS "fludarabine, cyclophosphamide, rituximab" ; FLAIR, an interim analysis of a multicentre, open-label, randomised

To read more about “B-cell chronic lymphocytic leukemia”

Lancet Oncol . 2023 May;24(5):535-552

Pompe Disease (with Late-Onset) : Phase 3, Avalglucosidase Alfa, efficacy and safety after 97 weeks... a Randomized Clinical Trial

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

JAMA Neurol . 2023 Jun 1;80(6):558-567

Chronic graft versus host disease, steroid-refractory : Phase 2, Abatacept

To read more about “Chronic graft versus host disease”

Blood . 2023 Jun 15;141(24):2932-2943

CCRCC (Clear cell renal carcinoma), advanced : Phase 2, Belzutifan + cabozantinib, with immunotherapy... an open-label, single-arm, study

To read more about “Clear cell renal carcinoma”

Lancet Oncol . 2023 May;24(5):553-562

Spondylo-ocular syndrome : Bisphosphonate treatment due to a novel compound heterozygote variant in XYLT2, and review of the literature

To read more about “Spondylo-ocular syndrome”

Am J Med Genet A . 2023 Jun;191(6):1581-1585

ASMD (Acid sphingomyelinase deficiency) : Olipudase alfa enzyme replacement therapy... sustained improvements in clinical outcomes after 6.5 years of treatment in adults

To read more about “Acid sphingomyelinase deficiency”

Orphanet J Rare Dis . 2023 Apr 25;18(1):94

Nasopharyngeal carcinoma : The tumor immune microenvironment, after gemcitabine plus cisplatin treatment

To read more about “Nasopharyngeal carcinoma”

Nat Med . 2023 Jun;29(6):1424-1436

Safety, feasibility, and neuromuscular activity of acute low-load resistance exercise with or without blood flow restriction in patients with severe hemophilia

To read more about “Hemophilia”

Eur J Haematol . 2023 Jul;111(1):47-56

NMOSD (Neuromyelitis optica spectrum disorder), treated with Immunosuppressants : Aquaporin‐4 Antibody Dynamics and Relapse Risk

To read more about “Neuromyelitis optica spectrum disorder”

Ann Neurol . 2023 Jun;93(6):1069-1081

FD (Fabry disease), with the p. Arg227Ter (R227*) mutation : Enzyme replacement therapy... long-term effectiveness

To read more about “Fabry disease”

Am J Med Genet A . 2023 Jul;191(7):1858-1869

DLBCL (Diffuse large B-cell lymphoma), refractory : Axicabtagene Ciloleucel, 5-Year Follow-Up Supports Curative Potential (ZUMA-1)

To read more about “Diffuse large B-cell lymphoma”

Blood . 2023 May 11;141(19):2307-2315

Multiple myeloma, refractory : Daratumumab-based therapy (D2), clinical efficacy of retreatment

To read more about “Multiple myeloma”

Eur J Haematol . 2023 Jun;110(6):626-632

PNH (Paroxysmal nocturnal hemoglobinuria) : Eculizumab... evaluation of treatment indications and outcomes, nationwide study

To read more about “Paroxysmal nocturnal hemoglobinuria”

Eur J Haematol . 2023 Jun;110(6):648-658

SLE (Systemic lupus erythematosus) : Predictors of Thirty-Day Hospital Readmissions in the USA... A Nationwide Study

To read more about “Systemic lupus erythematosus”

Arthritis Care Res (Hoboken) . 2023 May;75(5):989-997

PNH (Paroxysmal nocturnal hemoglobinuria) : Eculizumab... catastrophic health expenditure in Nepalese patients

To read more about “Paroxysmal nocturnal hemoglobinuria”

Orphanet J Rare Dis . 2023 Jun 30;18(1):172

Therapeutic Approaches

Preclinical evaluation of FLT190, a liver-directed AAV gene therapy for Fabry disease

To read more about “Fabry disease”

Gene Ther . 2023 Jun;30(6):487-502

N -acetylcysteine and cysteamine bitartrate prevent azide-induced neuromuscular decompensation by restoring glutathione balance in two novel surf1 −/− zebrafish deletion models of Leigh syndrome

To read more about “Leigh syndrome”

Hum Mol Genet . 2023 Jun 5;32(12):1988-2004

G3BP1-dependent mechanism suppressing protein aggregation in Huntington’s models and its demise upon stress granule assembly

To read more about “Huntington disease”

Hum Mol Genet . 2023 May 5;32(10):1607-1621

Aymé-Gripp syndrome : Generation and mutational analysis of a transgenic murine model of the human MAF mutation

To read more about “Aymé-Gripp syndrome”

Am J Med Genet A . 2023 Jul;191(7):1878-1888

SMEI (Dravet syndrome) : Viral vector–mediated expression of NaV1.1, after seizure onset, reduces epilepsy in mice

To read more about “Dravet syndrome”

J Clin Invest . 2023 Jun 15;133(12):e159316

ALS (Amyotrophic lateral sclerosis) : In vivo genome editing using novel AAV-PHP variants rescues motor function deficits and extends survival in a SOD1-ALS mouse model

To read more about “Amyotrophic lateral sclerosis”

Gene Ther . 2023 May;30(5):443-454

HSP (Hereditary spastic paraplegia) : Intrathecal AAV9/AP4M1 gene therapy, safety and efficacy in preclinical studies

To read more about “Hereditary spastic paraplegia”

J Clin Invest . 2023 May 15;133(10):e164575

Adult neuronal ceroid lipofuscinosis : A Caenorhabditis elegans model of autosomal dominant identifies ethosuximide as a potential therapeutic

To read more about “Adult neuronal ceroid lipofuscinosis”

Hum Mol Genet . 2023 May 18;32(11):1772-1785

HDV (Hepatitis delta) & Hepatitis B : Novel prime-boost immune-based therapy inhibiting virus infections

To read more about “Hepatitis delta”

Gut . 2023 Jun;72(6):1186-1195

Biomarkers

Fibrous dysplasia/McCune-Albright syndrome : Clinical value of RANKL , OPG , IL-6 and sclerostin as biomarkers

To read more about “Fibrous dysplasia/McCune-Albright syndrome”

Bone . 2023 Jun;171:116744

Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1

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

Genet Med . 2023 Mar;25(3):100349

Diagnostic Approaches

CCA (Cholangiocarcinoma) : Advanced endoscopy meets molecular diagnosis

To read more about “Cholangiocarcinoma”

J Hepatol . 2023 May;78(5):1063-1072

AHA (Autoimmune hemolytic anemia) : Clinical utility of targeted next‐generation sequencing panel in routine diagnosis ... a national reference laboratory experience

To read more about “Autoimmune hemolytic anemia”

Eur J Haematol . 2023 Jun;110(6):688-695

Neonatal screening

Progress in expanding newborn screening in the United States

Am J Hum Genet . 2023 Jun 1;110(6):1015-1016

Gaucher disease : The D409H variant in GBA1: Challenges in predicting the phenotype in the newborn screening era

To read more about “Gaucher disease”

Am J Med Genet A . 2023 Jul;191(7):1783-1791

SMA (Proximal spinal muscular atrophy) Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: Towards specific guidelines and standard operating procedures for the molecular diagnosis

To read more about “Proximal spinal muscular atrophy”

J Med Genet . 2023 Jul;60(7):697-705

Patient Management and Therapy

Esophageal papillomatosis: an exceedingly rare disease

To read more about “Carcinoma of esophagus”

Orphanet J Rare Dis . 2023 Apr 29;18(1):99

Autosomal dominant osteopetrosis

To read more about “Autosomal dominant osteopetrosis type 1”
To read more about “Albers-Schönberg osteopetrosis”

Bone . 2023 May;170:116723

How I treat erythropoietic protoporphyria and X-linked protoporphyria

To read more about “X-linked erythropoietic protoporphyria”
To read more about “Autosomal erythropoietic protoporphyria”

Blood . 2023 Jun 15;141(24):2921-2931

Myelofibrosis

To read more about “Primary myelofibrosis”

Blood . 2023 Apr 20;141(16):1954-1970

Rett syndrome : Phase 3, Trofinetide & Diarrhea

To read more about “Rett syndrome”

Exp Op. on Orph. Dr., 11 (1), 2023

Recommendations

Consensus recommendations on Epilepsy in Phelan-McDermid syndrome

To read more about “Monosomy 22q13.3”

Eur J Med Genet . 2023 Jun;66(6):104746

Glanzmann thrombasthenia : Emergency management of patients... consensus recommendations from the French reference center for inherited platelet disorders

To read more about “Glanzmann thrombasthenia”

Orphanet J Rare Dis . 2023 Jun 29;18(1):171

cHCC-CC (Combined hepatocellular carcinoma and cholangiocarcinoma) : EASL-ILCA Clinical Practice Guidelines

To read more about “Combined hepatocellular carcinoma and cholangiocarcinoma”

J Hepatol . 2023 Jul;79(1):181-208

Consensus recommendations on lymphedema in Phelan-McDermid syndrome

To read more about “Monosomy 22q13.3”

Eur J Med Genet . 2023 Jun;66(6):104767

Acute Myeloid Leukemia, Version 3.2023, NCCN Clinical Practice Guidelines in Oncology

To read more about “Acute myeloid leukemia”

J Natl Compr Canc Netw . 2023 May;21(5):503-513

HES ( Hypereosinophilic syndrome) : French guidelines for the etiological workup of eosinophilia and the management of hypereosinophilic syndromes

To read more about “Hypereosinophilic syndrome”

Orphanet J Rare Dis . 2023 Apr 30;18(1):100

French guidelines for the etiological workup of eosinophilia and the management of hypereosinophilic syndromes

To read more about “Hypereosinophilic syndrome”

Orphanet J Rare Dis . 2023 Apr 30;18(1):100.

ASMD (Acid sphingomyelinase deficiency ; Niemann-Pick disease types A, B and A/B) : Consensus clinical management guidelines

To read more about “Acid sphingomyelinase deficiency”

Orphanet J Rare Dis . 2023 Apr 17;18(1):85

Consensus recommendations on communication, language and speech in Phelan-McDermid syndrome

To read more about “Monosomy 22q13.3”

Eur J Med Genet . 2023 May;66(5):104745

Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome

To read more about “22q11.2 deletion syndrome”

Genet Med . 2023 Mar;25(3):100338

Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)

J Med Genet . 2023 Jun;60(6):523-532

Epidemiology

Turner syndrome : Inpatient epidemiology, healthcare utilization, and association with comorbidities... A National Inpatient Sample study

To read more about “Turner syndrome”

Am J Med Genet A . 2023 Jul;191(7):1870-1877

Quality of Life

Paroxysmal nocturnal hemoglobinuria: Fatigue and health-related quality of life ... A post hoc analysis of the pegcetacoplan PEGASUS trial data

To read more about “Paroxysmal nocturnal hemoglobinuria”

Eur J Haematol . 2023 Jul;111(1):72-83

Osteogenesis imperfecta : Quality of life of pediatric and adult individuals ... a meta-analysis

To read more about “Osteogenesis imperfecta”

Orphanet J Rare Dis . 2023 May 24;18(1):123

Quality of life and depression in Wilson ’ s disease : a large prospective cross ‑ sectional study

To read more about “Wilson disease”

Orphanet J Rare Dis . 2023 Jun 29;18(1):168

Dravet syndrome : Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients ... a prospective multicenter study in Germany

To read more about “Dravet syndrome”

Orphanet J Rare Dis . 2023 Apr 29;18(1):98

Other news

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Orphan drugs

Other news

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Summary of the edition of 26 July 2023

Editorial
Political news
Scientific news
And also...