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Edition of 30 April 2019

New Syndromes

Mutations in PTPRJ cause a new form of inherited thrombocytopenia

Two siblings with autosomal recessive thrombocytopenia were studied through exome sequencing. The researchers identified two biallelic loss-of-function variants in PTPRJ, which encodes a receptor-like protein tyrosine phosphatase expressed in platelets and megakaryocytes. The disorder caused by PTPRJ mutations presented as a non-syndromic thrombocytopenia characterised by spontaneous bleeding, small-sized platelets, and impaired platelet responses to the GPVI agonists collagen and convulxin, suggesting a new form of inherited thrombocytopenia.

Blood. 2019 Mar 21;133(12):1346-1357

Consult the PubMed abstract

To read more about “rare hemorrhagic disorder due to a constitutional thrombocytopenia”

Mutations in ERF cause a new craniosynostosis syndrome

A new paper published in American Journal of Medical Genetics identified 16 unrelated patients with ERF mutations, and additional 20 family members sharing the mutations, presenting a craniosynostosis. Most of the patients exhibited multisutural synostosis, with craniosynostosis postnatal in onset, insidious and progressive, facial dysmorphism, mild exorbitism and malar hypoplasia resembling Crouzon syndrome, a Class I occlusal relationship, speech delay, poor gross and/or fine motor control, and in some instances, permanent visual impairment due to unsuspected raised intracranial pressure.

Am J Med Genet A. 2019 Apr;179(4):615-627

Consult the PubMed abstract

Mutations in SMARCD1 cause a syndromic neurodevelopmental disorder

Five individuals were identified with SMARCD1 mutations, a core SWI/SNF subunit needed for context-dependent neuronal gene regulation in flies. The individuals presented with developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet. Overall, they shared dysmorphisms and some clinical overlap with other pathologies like Coffin-Siris syndrome or Nicolaides-Baraitser syndrome, but lacked their typical facial dysmorphisms.

Am J Hum Genet. 2019 Apr 4;104(4):596-610

Consult the PubMed abstract

Variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism

The American Journal of Human Genetics recently published a study of 14 unrelated individuals and three affected parents by using exome sequencing and a gene matching approach. The individuals shared varying degrees of intellectual disability or developmental delay, and short stature. They also shared additional phenotypic features that included feeding difficulties in infancy, joint hypermobility, and characteristic facial features such as a wide mouth, a pointed chin, long ears, and a low columella. They were identified with de novo and inherited pathogenic variants in KDM3B which encodes for a histone demethylase and is involved in H3K9 demethylation.

Am J Hum Genet. 2019 Apr 4;104(4):758-766

Consult the PubMed abstract

Mutations in VAMP2 affect synaptic membrane fusion and impair human neurodevelopment

The American Journal of Human Genetics recently published the study of unrelated individuals presenting with a neurodevelopmental disorder characterised by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. The researchers reported five heterozygous de novo mutations in VAMP2, which encodes a vesicular SNARE protein. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities.

Am J Hum Genet. 2019 Apr 4;104(4):721-730

Consult the PubMed abstract

Mutations in CDK8 cause a syndromic developmental disorder

The American Journal of Human Genetics recently published a study of twelve unrelated individuals presenting different heterozygous missense CDK8 substitutions, and they were characterised by hypotonia, mild to moderate intellectual disability, behavioural disorders, and variable facial dysmorphism. Congenital heart disease occurred in six subjects, and additional features included agenesis of the corpus callosum, ano-rectal malformations, seizures, and hearing or visual impairments. CDK8 encodes a regulator of the Mediator complex.

Am J Hum Genet. 2019 Apr 4;104(4):709-720

Consult the PubMed abstract

New Genes

Hereditary spastic paraplegia caused by mutations in UBAP1

Consult the PubMed abstract

To read more about “hereditary spastic paraplegia”

Am J Hum Genet. 2019 Apr 4;104(4):767-773

Abnormal primary cilium and a range of ciliopathy phenotypes in humans closely matching Joubert syndrome caused by mutations in FAM149B1

Consult the PubMed abstract

Am J Hum Genet. 2019 Apr 4;104(4):731-737

Short rib-polydactyly syndrome type 4 caused by mutations in IFT80

Consult the PubMed abstract

To read more about “short rib-polydactyly syndrome, Beemer-Langer type”

Am J Med Genet A. 2019 Apr;179(4):639-644

12q15 microdeletion syndrome linked to mutations in CNOT2

Consult the PubMed abstract

To read more about “12q15q21.1 microdeletion syndrome”

Am J Med Genet A. 2019 Apr;179(4):659-662

Asthenoteratospermia induced by mutations in TTC21A

Consult the PubMed abstract

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

Speech delay, intellectual disability, motor delay, behavioural issues, and autism associated with BRSK2 mutation

Consult the PubMed abstract

To read more about “rare intellectual disability”

Am J Hum Genet. 2019 Apr 4;104(4):701-708

Early infantile encephalopathy associated with variant SCN1A

Consult the PubMed abstract

To read more about “early infantile epileptic encephalopathy”

Ann Neurol. 2019 Apr;85(4):514-525

Multiple pheochromocytomas and paragangliomas linked to variants in DLST

Consult the PubMed abstract

To read more about “hereditary pheochromocytoma-paraganglioma”

Am J Hum Genet. 2019 Apr 4;104(4):651-664

Clinical Research

Immune thrombocytopenia: A phase 3 clinical trial on long-term fostamatinib treatment showed that half of the patients achieved an overall response

Consult the PubMed abstract

To read more about “immune thrombocytopenic purpura”

Am J Hematol. 2019 May;94(5):546-553

Hypophosphatasia: Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents showed improvements in gross motor function, muscle strength and patient-reported functional disability

Consult the PubMed abstract

To read more about “adult hypophosphatasia”

Bone. 2019 Apr;121:149-162

Phenylketonuria: Report of a ten-year follow-up showed that cognitive performance in adult patients with early-treated PKU did not seem to deteriorate in the ten-year interval

Consult the PubMed abstract

To read more about “phenylketonuria”

Mol Genet Metab. 2019 Mar;126(3):246-249

Fibrodysplasia ossificans progressiva: Treatment of three patients with propranolol and ascorbic acid showed that they no longer reported flare-ups nor heterotopic ossification and showed normal scar healing after injury

Consult the PubMed abstract

To read more about “fibrodysplasia ossificans progressiva”

Intractable Rare Dis Res. 2019 Feb; 8(1): 24–28

Ehlers-Danlos syndrome: A retrospective study on the use of prescription opioid and other drugs showed that patients with EDS had higher cumulative dosages over a 2-year period

Consult the PubMed abstract

To read more about “Ehlers-Danlos syndrome”

Am J Med Genet A. 2019 Mar;179(3):397-403

Duchenne muscular dystrophy: A retrospective study showed that increased blood pressure and body mass index may be potentially modifiable factors to retard deterioration of myocardial function

Consult the PubMed abstract

To read more about “Duchenne muscular dystrophy”

J Neuromuscul Dis. 2019;6(1):65-73

Chronic lymphocytic leukemia: Analysis of two multicentre phase 3 studies showed that the best outcomes following ibrutinib discontinuation were for patients receiving ibrutinib in earlier lines of therapy

Consult the PubMed abstract

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

Am J Hematol. 2019 May;94(5):554-562

Multiple myeloma: A phase 2 study showed carfilzomib and dexamethasone therapy for newly diagnosed patients effective and safe

Consult the PubMed abstract

To read more about “multiple myeloma”

Am J Hematol. 2019 May;94(5):539-545

Multiple myeloma: FRAX assessment of baseline fracture risk is beneficial to identify an individual patient's risk of vertebral fracture

Consult the PubMed abstract

To read more about “multiple myeloma”

Bone. 2019 Apr;121:134-138

Acute lymphoblastic leukemia: A prospective study showed the use of a pediatric regimen for young adults up to age 40 years was feasible and effective, resulting in improved survival rates compared to historical controls

Consult the PubMed abstract

To read more about “acute lymphoblastic leukemia”

Blood. 2019 Apr 4;133(14):1548-1559

Acute myeloid leukemia: A randomised type 2 study showed that azacitidine maintenance after intensive chemotherapy improved disease free survival in older patients

Consult the PubMed abstract

To read more about “acute myeloid leukemia”

Blood. 2019 Mar 28;133(13):1457-1464

Biomarkers

Early biomarkers of amyloid neuropathy

Consult the PubMed abstract

To read more about “ATTRV30M amyloidosis”

Ann Neurol. 2019 Apr;85(4):560-573

A prospective study on cardiac troponin T and NT-proBNP as diagnostic and prognostic biomarkers or primary cardiac involvement and disease severity in systemic sclerosis

Consult the PubMed abstract

To read more about “systemic sclerosis”

Eur J Intern Med. 2019 Feb;60:46-53

Therapeutic Approaches

Fabry disease: Preclinical studies of mRNA therapy in wild-type mice, Fabry mouse model, and wild-type non-human primates

Consult the PubMed abstract

To read more about “Fabry disease”

Am J Hum Genet. 2019 Apr 4;104(4):625-637

Duchenne muscular dystrophy: Intermittent PTH treatment improves bone and muscle in glucocorticoid treated Mdx mice

Consult the PubMed abstract

To read more about “Duchenne muscular dystrophy”

Bone. 2019 Apr;121:232-242

Craniosynostosis: A review of mouse models

Consult the PubMed abstract

To read more about “craniosynostosis”

Mol Syndromol. 2019 Feb;10(1-2):58-73

Down syndrome: Report from the Second International Conference of the Trisomy 21 Research Society

Consult the PubMed abstract

To read more about “Down syndrome”

Mol Syndromol. 2019 Jan;9(6):279-286

Diagnostic Approaches

Congenital disorder of glycosylation: The challenge of a diagnosis

Consult the PubMed abstract

To read more about “congenital disorder of glycosylation”

Mol Genet Metab. 2019 Jan;126(1):1-5

Giant cell arteritis: Validation of diagnosis code in the French hospital electronic database

Consult the abstract

To read more about “giant cell arteritis”

Eur J Intern Med. 2019 Feb;60:e16-e17

Hereditary hemorrhagic telangiectasia: Uptake and radiological findings of screening cerebral magnetic resonance scans

Consult the PubMed abstract

To read more about “hereditary hemorrhagic telangiectasia”

Intractable Rare Dis Res. 2018 Nov; 7(4): 236–244

Patient Management and Therapy

Prune belly syndrome: A brief report on approaches to its diagnosis and management

Consult the PubMed abstract

To read more about “prune belly syndrome”

Intractable Rare Dis Res. 2018 Nov; 7(4): 271–274

Diffuse large B-cell lymphoma: 2019 update on diagnosis, risk-stratification and treatment

Consult the PubMed abstract

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

Am J Hematol. 2019 May;94(5):604-616

Neuromuscular disease: A review on exploration of new contrasts, targets, and MR imaging and spectroscopy techniques

Consult the PubMed abstract

To read more about “neuromuscular disease”

J Neuromuscul Dis. 2019;6(1):1-30

Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature

Consult the PubMed abstract

To read more about “osteogenesis imperfecta”

Bone. 2019 Apr;121:191-195

Reviews on elderly patients' care and management

Autoimmune hemolytic anemia, autoimmune neutropenia and aplastic anemia in the elderly
Myelodysplastic syndromes and acute myeloid leukemias in the elderly
Curing diffuse large B-cell lymphomas in elderly patients
Chronic myeloproliferative neoplasms in the elderly
Special problems in the management of elderly patients with multiple myeloma
Management of unfit elderly patients with chronic lymphocytic leukemia
Management of immune thrombocytopenia in elderly patients
Management of the elderly patient with AL amyloidosis

To read more about “autoimmune hemolytic anemia”
To read more about “acquired neutropenia”
To read more about “aplastic anemia”
To read more about “myelodysplastic syndrome”
To read more about “diffuse large B-cell lymphoma”
To read more about “myeloproliferative neoplasm”
To read more about “B-cell chronic lymphocytic leukemia”
To read more about “immune thrombocytopenic purpura”
To read more about “AL amyloidosis”

Eur J Intern Med. 2018 Dec;58:77-83
Eur J Intern Med. 2018 Dec;58:28-32
Eur J Intern Med. 2018 Dec;58:14-21
Eur J Intern Med. 2018 Dec;58:33-42
Eur J Intern Med. 2018 Dec;58:64-69
Eur J Intern Med. 2018 Dec;58:7-13
Eur J Intern Med. 2018 Dec;58:70-76
Eur J Intern Med. 2018 Dec;58:48-56

Trisomy 18: Solid tumor screening recommendations

Consult the PubMed abstract

To read more about “trisomy 18”

Am J Med Genet A. 2019 Mar;179(3):455-466

Lyme neuroborreliosis in children: Report of nine cases and a review of the literature

Consult the PubMed abstract

To read more about “Lyme disease”

Arch Pediatr. 2019 Apr;26(3):133-137

Facioscapulohumeral muscular dystrophy: A mini-review on management strategies

Consult the PubMed abstract

To read more about “facioscapulohumeral dystrophy”

Intractable Rare Dis Res. 2019 Feb; 8(1): 9–13

Nipah virus disease: A review

Consult the PubMed abstract

To read more about “Nipah virus disease”

Intractable Rare Dis Res. 2019 Feb; 8(1): 1–8

Craniosynostosis: Three reviews on genetic causes, complexities of clinical care, and animal models

Consult the PubMed abstract
Consult the PubMed abstract
Consult the PubMed abstract

To read more about “craniosynostosis”

Mol Syndromol. 2019 Feb;10(1-2):6-23
Mol Syndromol. 2019 Feb;10(1-2):83-97
Mol Syndromol. 2019 Feb;10(1-2):115-123

Eosinophilic esophagitis: A review on pathophysiology, diagnosis, and management

Consult the PubMed abstract

To read more about “eosinophilic esophagitis”

Arch Pediatr. 2019 Apr;26(3):182-190

Langerhans cell histiocytosis: A review on cladribine

Consult the abstract

To read more about “Langerhans cell histiocytosis”

J Rare Disorders Diagnosis & Therapy. Vol. 5 No. 1:1

Turner syndrome: A mini-review on incidence, complications, diagnosis, and treatment

Consult the PubMed abstract

To read more about “Turner syndrome”

Intractable Rare Dis Res. 2018 Nov;7(4):223-228

Fabry disease: A systematic review of the effect of enzyme replacement therapy on clinical outcomes in pediatric patients

Consult the PubMed abstract

To read more about “Fabry disease”

Mol Genet Metab. 2019 Mar;126(3):212-223

Recommendations

Menkes disease: A systematic review and evidence-based guideline for diagnosis and treatment

Consult the PubMed abstract

To read more about “Menkes disease”

Mol Genet Metab. 2019 Jan;126(1):6-13

Mucopolysaccharidosis: Critical review of current guidelines and management

Consult the PubMed abstract

To read more about “mucopolysaccharidosis”

Mol Genet Metab. 2019 Mar;126(3):238-245

Duchenne muscular dystrophy: Clinical practice recommendation on management of adrenal insufficiency risk after long-term systemic glucocorticoid therapy

Consult the PubMed abstract

To read more about “Duchenne muscular dystrophy”

J Neuromuscul Dis. 2019;6(1):31-41

Fetal and neonatal alloimmune thrombocytopenia: Expert opinion of the French-speaking working group on management

Consult the PubMed abstract

To read more about “fetal and neonatal alloimmune thrombocytopenia”

Arch Pediatr. 2019 Apr;26(3):191-197

Epidemiology

Beckwith-Wiedemann syndrome in diverse populations

Consult the PubMed abstract

To read more about “Beckwith-Wiedemann syndrome”

Am J Med Genet A. 2019 Apr;179(4):525-533

Down syndrome: Prevalence and risk factors via a hospital-based single-centre study in Western Mexico

Consult the PubMed abstract

To read more about “Down syndrome”

Am J Med Genet A. 2019 Mar;179(3):435-441

Summary of the edition of 30 April 2019

Editorial
- Editorial
- Orphanet News
Scientific news
Political news
And also...