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Editorial
- 31 March 2018
- Orphanet News
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Edition of 03 April 2018

New Syndromes

Intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia caused by WDR45B homozygous variants in 6 individuals

The authors presented 6 individuals from 3 unrelated families with homozygous pathogenic variants in WDR45B. These individuals shared a similar phenotype including profound development delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. Neuroimaging showed ventriculomegaly, reduced cerebral white matter volume, and thinning of cerebral grey matter.

Clin Genet. 2018 Feb;93(2):360-364

Consult the PubMed abstract

Developmental delay with prominent nose and a thin upper lip linked to QRICH1 loss-of-function mutation in 3 unrelated children

The authors presented 3 unrelated children with de novo loss-of-function mutations in QRICH1, diagnosed through trio-based exome sequencing. All 3 children had a speech delay, learning difficulties, a prominent nose and a thin upper lip. In addition, 2 of them had mildly raised creatine kinase and 1 of them had autism.

Clin Genet. 2018 Feb;93(2):286-292

Consult the PubMed abstract

Neurodevelopmental brain malformation syndrome due to homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 in a consanguineous family

The authors reported a consanguineous Arab family with 3 affected siblings who displayed a disorder of global developmental delay, learning difficulties, facial dysmorphism, hearing impairments, and cataract. The clinical phenotype was associated with characteristic brain magnetic resonance imaging features of axonal guidance defects involving anterior commissure agenesis as well as scattered areas of polymicrogyria-cobblestone complex. Whole genome sequencing revealed a novel nonsense mutation in SCHIP/IQCJ-SCHIP1 that segregated in the family consistent in an autosomal recessive pattern.

Clin Genet. 2018 Feb;93(2):387-391

Consult the PubMed abstract

New Genes

Ramon syndrome caused by a homozygous mutation in ELMO2

Consult the PubMed abstract

To read more about “Ramon syndrome”

Clin Genet. 2018 Mar;93(3):703-706

Kabuki syndrome linked to HNRNPK haploinsufficiency

Consult the PubMed abstract

To read more about “Kabuki syndrome”

Clin Genet. 2018 Feb;93(2):401-407

Long QT syndrome associated with deleterious mutations in SCN10A

Consult the PubMed abstract

To read more about “Familial long QT syndrome”

Clin Genet. 2018 Apr;93(4):741-751

Familial erythrocytosis due to a gain-of-function in EPO in an extended kindred

Consult the PubMed abstract

To read more about “Primary familial polycythemia”

N Engl J Med. 2018 Mar 8;378(10):924-930

Cerebral arteriovenous malformation associated with somatic activating KRAS mutations

Consult the PubMed abstract

To read more about “Cerebral arteriovenous malformation”

N Engl J Med. 2018 Jan 18;378(3):250-261

Mitochondrial cystic leukoencephalopathy caused by recessive mutations in NDUFA2 in two patients

Consult the PubMed abstract

To read more about “Cystic leukoencephalopathy without megalencephaly”

Clin Genet. 2018 Feb;93(2):396-400

Anencephaly linked to PDGFRA, MAT1A and NOS2 variants

Consult the PubMed abstract

To read more about “Isolated anencephaly/exencephaly”

Clin Genet. 2018 Apr;93(4):870-879

Neural tube defects associated with heterozygous mutations in GIF and FUT2

Consult the PubMed abstract

To read more about “Neural tube defect”

Clin Genet. 2018 Jan;93(1):191-193

Cleft lip with or without cleft palate due to variants in DLG1

Consult the PubMed abstract

To read more about “Cleft lip with or without cleft palate”

Clin Genet. 2018 Apr;93(4):784-793

Split hand-split foot malformation caused by a homozygous loss-of-function variant in EPS15L1

Consult the PubMed abstract

To read more about “Isolated split hand-split foot malformation”

Clin Genet. 2018 Mar;93(3):699-702

Cone rod dystrophy associated with NMNAT1 mutation

Consult the PubMed abstract

To read more about “Cone rod dystrophy”

Clin Genet. 2018 Jan;93(1):149-154

Total sclerocornea caused by heterozygous mutations in GJA8

Consult the PubMed abstract

To read more about “Isolated congenital sclerocornea”

Clin Genet. 2018 Jan;93(1):155-159

Familial isolated restrictive cardiomyopathy associated with compound heterozygous loss-of-function mutations in KIF20A in two siblings

Consult the PubMed abstract

To read more about “Familial isolated restrictive cardiomyopathy”

Polyvalvular heart disease syndrome associated with TAB2 mutations

Consult the PubMed abstract

To read more about “Polyvalvular heart disease syndrome”

Clin Genet. 2018 Jan;93(1):126-133

Asthenozoospermia due to a homozygous SPAG17 mutation in twins

Consult the PubMed abstract

To read more about “Non-syndromic male infertility due to sperm motility disorder”

Clin Genet. 2018 Feb;93(2):345-349

Renal or urinary tract malformation linked to homozygous loss of MAZ

Consult the PubMed abstract

To read more about “Renal or urinary tract malformation”

Proc Natl Acad Sci U S A. 2018 Feb 20;115(8):E1849-E1858

Carbamazepine-responsive cramp-fasciculation syndrome associated with a novel TRPA1 variant

Consult the PubMed abstract

Clin Genet. 2018 Jan;93(1):164-168.

Hereditary sensory and autonomic neuropathy type 2 caused by ARL6IP1 mutation in one patient

Consult the PubMed abstract

To read more about “Hereditary sensory and autonomic neuropathy type 2”

Clin Genet. 2018 Jan;93(1):169-172

Neurogenic arthrogryposis multiplex congenita due to ERGIC1 homozygous mutations

Consult the PubMed abstract

To read more about “Neurogenic arthrogryposis multiplex congenita”

Clin Genet. 2018 Jan;93(1):160-163

Precursor T-cell acute lymphoblastic leukaemia associated with SET-NUP214, ZBTB16-ABL1, TRA-SALL3, NKX2-1, SLC17A9, HOXA, MEF2C and LYL1 variants

Consult the PubMed abstract

To read more about “Precursor T-cell acute lymphoblastic leukaemia”

Proc Natl Acad Sci U S A. 2018 Jan 9;115(2):373-378

Auriculocondylar syndrome: MEF2C as a candidate gene

Consult the PubMed abstract

To read more about “Auriculocondylar syndrome”

Clin Genet. 2018 Feb;93(2):356-359

Male infertility with teratozoospermia: TSGA10 as a candidate gene

Consult the PubMed abstract

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

Clin Genet. 2018 Apr;93(4):776-783

Familial ovarian cancer: MAGEC3 as a candidate gene

Consult the PubMed abstract

To read more about “Familial ovarian cancer”

PLoS Genet. 2018 Feb 15;14(2):e1007194

Clinical Research

Bronchopulmonary dysplasia: higher mortality rate and same rate of neurodevelopmental disability between infants who received early inhaled budesonide and those who received placebo

Consult the PubMed abstract

To read more about “Bronchopulmonary dysplasia”

N Engl J Med. 2018 Jan 11;378(2):148-157

Haemophilia A: gene transfer is associated with normalisation of factor VIII activity level, with stabilisation of haemostasis and a profound reduction in factor VIII use

Consult the PubMed abstract

To read more about “Haemophilia A”

N Engl J Med. 2017 Dec 28;377(26):2519-2530

Primary systemic amyloidosis: repeat doses of antibody to serum amyloid P component clear amyloid deposits and improves liver function tests

Consult the PubMed abstract

To read more about “Primary systemic amyloidosis”

Sci Transl Med. 2018 Jan 3;10(422)

Scleroderma: myeloablative autologous haematopoietic stem-cell transplantation improves event-free and overall survival at a cost of increased expected toxicity

Consult the PubMed abstract

To read more about “Scleroderma”

N Engl J Med. 2018 Jan 4;378(1):35-47

Proximal spinal muscular atrophy: nusinersen improves motor function in children

Consult the PubMed abstract

To read more about “Proximal spinal muscular atrophy”

N Engl J Med. 2018 Feb 15;378(7):625-635

Multiple myeloma: the addition of daratumumab to bortezomib, melphalan, and prednisone results in a lower risk of disease progression or death but increases infections

Consult the PubMed abstract

To read more about “Consult the German study on Orphanet”
To read more about “Consult the Spanish study on Orphanet”
To read more about “Multiple myeloma”

N Engl J Med. 2018 Feb 8;378(6):518-528

Hodgkin lymphoma: brentuximab vedotin, doxorubicin, vinblastine, and dacarbazine has superior efficacy to doxorubicin, bleomycin, vinblastine, and dacarbazine

Consult the PubMed abstract

To read more about “Consult the study on Orphanet”
To read more about “Hodgkin lymphoma”

N Engl J Med. 2018 Jan 25;378(4):331-344

Precursor B-cell acute lymphoblastic leukaemia: a single infusion of tisagenlecleucel provides durable remission in paediatric and young adult patients with transient high-grade toxic effects

Consult the PubMed abstract

To read more about “Precursor B-cell acute lymphoblastic leukaemia”

N Engl J Med. 2018 Feb 1;378(5):439-448

Diffuse large B-cell lymphoma: high levels of durable response with adverse events with axicabtagene ciloleucel CAR T-cell therapy

Consult the PubMed abstract

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

N Engl J Med. 2017 Dec 28;377(26):2531-2544

B-cell lymphoma: CTL019 cells can be effective in the treatment, with transient adverse events

Consult the PubMed abstract

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

N Engl J Med. 2017 Dec 28;377(26):2545-2554

Therapeutic Approaches

Human embryonic stem cells-derived retinal epithelial cell sheets potentiate rescue of photoreceptor cell loss in rats with retinal degeneration

Consult the PubMed abstract

To read more about “Retinitis pigmentosa”

Sci Transl Med. 2017 Dec 20;9(421).

Familial abdominal aortic aneurysm: antagonism of the cysteinyl leukotriene receptor 1 by montelukast, an established antiasthma drug, protects against a strong aorta dilatation in a mouse model

Consult the PubMed abstract

To read more about “Familial abdominal aortic aneurysm”

Proc Natl Acad Sci U S A. 2018 Feb 20;115(8):1907-1912

Spinal muscular atrophy: small-molecule flunarizine increases SMN protein in nuclear Cajal bodies and motor function in a mouse model

Consult the PubMed abstract

Sci Rep. 2018 Feb 1;8(1):2075

Blackfan-Diamond anaemia and other erythroid disorders: review on advanced cell culture models

Consult the PubMed abstract

To read more about “Blackfan-Diamond anaemia”

Stem Cells. 2018 Feb;36(2):172-179

Methylmalonic acidemia: systemic messenger RNA therapy improves survival and weight gain in two mouse models

Consult the PubMed abstract

Cell Rep. 2017 Dec 19;21(12):3548-3558

Intellectual disability: novel Drosophila model

Consult the PubMed abstract

Cell Rep. 2018 Feb 27;22(9):2359-2369

CHARGE syndrome: new mouse model

Consult the PubMed abstract

To read more about “CHARGE syndrome”

Proc Natl Acad Sci U S A. 2018 Jan 23;115(4):E620-E629

Diagnostic Approaches

Cincinnati Clinical Exome Pipeline Analysis Suite (CCEPAS): creation and validation of a fast and sensitive clinical whole exome analysis pipeline based on gene and variant ranking to establish a clinical diagnosis

Consult the abstract

Journal of Translational Genetics and Genomics. 2018 Jan 31.

Thalassemia: review on clinical classification, screening and diagnosis

Consult the PubMed abstract

Hematol Oncol Clin North Am. 2018 Apr;32(2):193-211

Primary immunodeficiency: clinical efficacy of a next-generation sequencing gene panel

Consult the PubMed abstract

To read more about “Primary immunodeficiency”

Clin Genet. 2018 Mar;93(3):647-655

Paediatric cardiomyopathy: expanded panels that include genes associated with multiple phenotypic subtypes do not increase diagnostic yield

Consult the PubMed abstract

Clin Genet. 2018 Jan;93(1):33-40.

Inherited peripheral neuropathies: whole-exome sequencing is a valuable diagnostic tool

Consult the PubMed abstract

Clin Genet. 2018 Feb;93(2):301-309

Patient Management And Therapy

Review on next-generation sequencing technologies as a turning point in rare disease research, diagnosis and treatment

Consult the PubMed abstract

Curr Med Chem. 2018 Jan 30;25(3):404-432

Huntington disease: review on the use of stem cells for the treatment

Consult the PubMed abstract

To read more about “Huntington disease”

Stem Cells. 2018 Feb;36(2):146-160

Cystic fibrosis: Cochrane review on long-acting bronchodilators

Consult the PubMed abstract

To read more about “Cystic fibrosis”

Cochrane Database Syst Rev. 2017 Dec 19;12:CD012102

Sickle cell anaemia: Cochrane review on phytomedicines

Consult the PubMed abstract

To read more about “Sickle cell anaemia”

Cochrane Database Syst Rev. 2018 Feb 15;2:CD004448

Protein misfolding disease: review of pharmacological treatment

Consult the PubMed abstract

Clin Genet. 2018 Mar;93(3):450-458

Spinal muscular atrophy: review on therapy

Consult the PubMed abstract

Nat Rev Neurol. 2018 Feb 9. [Epub ahead of print]

B cell malignancies: review on chimeric antigen receptor T cell therapies

Consult the PubMed abstract

Stem Cells. 2018 Jan;36(1):36-44

Multiple myeloma: Cochrane review on bisphosphonates

Consult the PubMed abstract

To read more about “Multiple myeloma”

Cochrane Database Syst Rev. 2017 Dec 18;12:CD003188

Disorders of metal metabolism: a review

Consult the PubMed abstract

Orphanet J Rare Dis. 2018 Jan 17;13(1):6.

Sjögren-Larsson syndrome: review on clinical, biochemical and genetic aspects

Consult the PubMed abstract

To read more about “Sjögren-Larsson syndrome”

Clin Genet. 2018 Apr;93(4):721-730

Hereditary palmoplantar keratoderma: review on classification, clinical and genetic features

Consult the PubMed abstract

To read more about “Hereditary palmoplantar keratoderma”

J Eur Acad Dermatol Venereol. 2018 Feb 28. [Epub ahead of print]

Necrotizing soft tissue infection: a review

Consult the PubMed abstract

To read more about “Necrotizing soft tissue infection”

N Engl J Med. 2018 Mar 8;378(10):970

Retinopathy of prematurity: review on pathophysiology, screening and treatment

Consult the PubMed abstract

To read more about “Retinopathy of prematurity”

Prog Retin Eye Res. 2018 Jan;62:77-119

Chronic graft versus host disease: review on pathophysiology and therapy

Consult the PubMed abstract

To read more about “Chronic graft versus host disease”

N Engl J Med. 2017 Dec 28;377(26):2565-2579

Post-transplant lymphoproliferative disease in adults: a review

Consult the PubMed abstract

To read more about “Post-transplant lymphoproliferative disease”

N Engl J Med. 2018 Feb 8;378(6):549-562

Amyotrophic lateral sclerosis: a review

Consult the PubMed abstract

To read more about “Amyotrophic lateral sclerosis”

Stem Cells. 2018 Mar;36(3):293-303

Four new and eight updated GeneReviews published

GeneReviews are expert-authored, peer-reviewed disease descriptions ("chapters") presented in a standardised format and focused on clinically relevant and medically actionable information on the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions.

Four new GeneReviews have been published for:

Mitochondrial DNA maintenance defects overview
Schwannomatosis
ISCA2-related mitochondrial disorder
Bohring-Opitz syndrome

Eight updated GeneReviews have been published for:

Glucose transporter type 1 deficiency syndrome
Loeys-Dietz syndrome
POLG-related disorders
Pyruvate carboxylase deficiency
ATP1A3-related neurologic disorders
TFR2-related hereditary hemochromatosis
X-linked adrenoleukodystrophy
X-linked dystonia-parkinsonism

Recommendations

Aplastic anaemia: paediatric guidelines

Consult the PubMed abstract

To read more about “Aplastic anaemia”

Br J Haematol. 2018 Jan;180(2):201-205

Cystic renal disease: recommendation on perinatal diagnosis, management and follow-up

Consult the PubMed abstract

To read more about “Familial cystic renal disease”

JAMA Pediatr. 2018 Jan 1;172(1):74-86

Mycosis fungoides and Sézary syndrome: recommendations on blood classification and response criteria

Consult the PubMed abstract

To read more about “Classic mycosis fungoides”
To read more about “Sézary syndrome”

Eur J Cancer. 2018 Apr;93:47-56

Paediatric malignancy: guidelines on management of thrombotic and haemostatic issues

Consult the PubMed abstract

Br J Haematol. 2018 Feb;180(4):511-525

Epidemiology

Huntington disease: epidemiology in Cyprus

Consult the PubMed abstract

To read more about “Huntington disease”

Clin Genet. 2018 Mar;93(3):656-664

Summary of the edition of 03 April 2018

Editorial
- 31 March 2018
- Orphanet News
Political news
Scientific news
And also...