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Edition of 26 February 2021

New Syndromes

UBR7 functions with UBR5 in the Notch signaling pathway is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism

A new study published in the American Journal of Human Genetics identified seven individuals with intellectual disability, epilepsy, ptosis, hypothyroidism, and genital anomalies with bi-allelic variants in UBR7. Analysis of ubr-5 and ubr-7 single mutants and double mutants revealed genetic interactions with the Notch receptor gene glp-1 that influenced development and embryo formation. The study showed that the UBR protein family and the Notch signaling pathway is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism that differs from Johanson-Blizzard syndrome, which is caused by bi-allelic variants in UBR1.

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Am J Hum Genet . 2021 Jan 7;108(1):134-147

De novo variant in AMOTL1 cause cleft lip and palate, imperforate anus and dysmorphic features in infant

A new study published in the American Journal of Medical Genetics identified a female infant with cleft lip and palate, imperforate anus and dysmorphic features, in whom trio exome sequencing revealed a de novo variant in AMOTL1. AMOTL1 belongs to the Motin family of proteins that are involved in organogenesis and tumorigenesis through regulation of cellular migration, tube formation, and angiogenesis. This study supports the conjecture regarding the disruptive effect of pathogenic variants in AMOTL1 on organ formation in humans.

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Am J Med Genet A . 2021 Jan;185(1):190-195.

New Genes

Neonatal diabetes and microcephaly are caused by YIPF5 mutations

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To read more about “Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome”

J Clin Invest . 2020 Dec 1;130(12):6228-6231

Global developmental delay and behavioral changes are caused by de novo variants in MPP5

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To read more about “Non-specific syndromic intellectual disability”

Am J Hum Genet . 2020 Dec 3;107(6):1113-1128.

Juvenile hereditary spastic paraplegia is caused by UBAP1 mutations in the 100,000 Genomes Project

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To read more about “Pure hereditary spastic paraplegia”

Eur J Hum Genet . 2020 Dec;28(12):1763-1768

Biomarkers

Juvenile idiopathic arthritis : a study of the comparison of serum biomarkers for the diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis during tocilizumab therapy

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To read more about “Juvenile idiopathic arthritis”

Pediatr Res . 2020 Dec;88(6):934-939.

Gaucher Disease : a study showed that eye movement biomarkers allow for the definition of phenotypes

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To read more about “Gaucher disease”

Orphanet J Rare Dis . 2020 Dec 17;15(1):349

Clinical Research

Marfan syndrome : a study showed a long-term clinical benefit of combined losartan and β-blocker treatment

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To read more about “Marfan Syndrome”

Eur Heart J . 2020 Nov 14;41(43):4181-4187.

GNE myopathy : a study showed that no serious maternal or newborn complications, and subjective progression did not differ during or after delivery in the majority of GNE myopathy patients

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To read more about “GNE myopathy”

Orphanet J Rare Dis . 2020 Sep 11;15(1):245

Acute myeloid leukemia : a retrospective study showed that a small proportion of relapsed or refractory acute myeloid leukemia patients may still respond to cautious intensification of chemotherapy with venetoclax

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To read more about “Acute myeloid leukemia”

Eur J Haematol . 2021 Jan;106(1):105-113.

Cartilage-hair hypoplasia : a retrospective cohort study showed that most pregnancies lead to a term cesarean section delivery

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To read more about “Cartilage-hair hypoplasia”

Orphanet J Rare Dis . 2020 Nov 19;15(1):326

Eosinophilic esophagitis : a randomized study showed that budesonide orodispersible tablets maintain remission

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To read more about “Eosinophilic esophagitis”

Gastroenterology . 2020 Nov;159(5):1672-1685.e5.

Duchenne muscular dystrophy : a study of the suitability of real-world data and natural history data for use as external controls in drug evaluations for ambulatory Duchenne muscular dystrophy

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To read more about “Duchenne muscular dystrophy”

Neurology . 2020 Sep 8;95(10):e1381-e1391.

Epidermolysis bullosa simplex : a study showed that topical ropivacaine 0.2% has a good clinical tolerance and rapid action in newborns with aplasia cutis congenita and hereditary epidermolysis bullosa

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To read more about “Epidermolysis bullosa simplex”

Orphanet J Rare Dis . 2020 Dec 1;15(1):338.

Multiple myeloma : a phase 3 trial showed that a once-per-week regimen of selinexor, bortezomib, and dexamethasone is a novel effective treatment option for patients who have received one to three previous lines of therapy

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To read more about “Multiple myeloma”

Lancet . 2020 Nov 14;396(10262):1563-15730

Down syndrome : a study showed that a majority of newborns with Down syndrome required intensive care following birth while a minority had any concern for the diagnosis prenatally

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To read more about “Down syndrome”

Am J Med Genet A . 2020 Oct 31.

Krabbe disease : a natural history study

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To read more about “Krabbe disease”

Orphanet J Rare Dis . 2020 Sep 10;15(1):243.

Diagnostic Approaches

Ehlers-Danlos syndrome and Guillain-Barré syndrome : a study showed that pain drawings are a useful and economic tool to differentiate between Ehlers-Danlos Syndrome and Guillain-Barré Syndrome

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To read more about “Ehlers-Danlos syndrome”
To read more about “Guillain-Barré syndrome”

Orphanet J Rare Dis . 2020 Nov 17;15(1):323.

Neurofibromatosis type 1 : a study showed that constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1

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To read more about “Neurofibromatosis type 1”

Genet Med . 2020 Dec;22(12):2081-2088.

Therapeutic Approaches

Cystic fibrosis : a study of a common strategy based on modified U1 snRNAs to correct exon skipping in a group of disease-causing CFTR mutations

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To read more about “Cystic fibrosis”

Hum Mutat . 2020 Dec;41(12):2143-2154

Patient Management and Therapy

Epithelioid sarcoma : a study of tazemetostat as a treatment for epithelioid sarcoma

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To read more about “Epithelioid sarcoma”

Expert Opin Orphan Drugs. 2020;8(9):311-315.

Gaucher disease : a study of the changes in the counseling and management of patients with Parkinson's disease in Gaucher disease patients and their relatives

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To read more about “Gaucher disease”

Orphanet J Rare Dis . 2020 Sep 23;15(1):262

Fibrodysplasia ossificans progressiva : a review of a disorder of osteochondrogenesis

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To read more about “Fibrodysplasia ossificans progressiva”

Bone . 2020 Nov;140:115539.

Von Willebrand disease : How I manage pregnancy in carriers of hemophilia and patients with von Willebrand disease

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To read more about “Von Willebrand disease”

Blood . 2020 Nov 5;136(19):2143-2150

Antisynthetase syndrome : a review

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To read more about “Antisynthetase syndrome”

Semin Arthritis Rheum . 2020 Dec 21;51(1):72-83.

Congenital solitary functioning kidney : clinical management of children with a congenital solitary functioning kidney : overview and recommendations

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European Urology Open Science (2021) 11-20

Recommendations

Epidermolysis bullosa simplex : clinical practice guidelines supporting sexuality

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To read more about “Epidermolysis bullosa simplex”

Orphanet J Rare Dis . 2021 Jan 6;16(1):9.

Stevens-Johnson syndrome : practices, literature review, and consensus agreement of management of ocular involvement in the acute phase of Stevens-Johnson syndrome and toxic epidermal necrolysis

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To read more about “Stevens-Johnson syndrome”

Orphanet J Rare Dis . 2020 Sep 22;15(1):259.

Hereditary ATTR amyloidosis : Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy

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To read more about “Hereditary ATTR amyloidosis”

Orphanet J Rare Dis . 2020 Dec 14;15(1):348.

Epidemiology

Mucopolysaccharidosis : a study of estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes

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To read more about “Mucopolysaccharidosis”

Orphanet J Rare Dis . 2020 Nov 18;15(1):324.

Mucopolysaccharidosis : a study of survival and diagnostic age of 175 Taiwanese patients from 1985 to 2019

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To read more about “Mucopolysaccharidosis”

Orphanet J Rare Dis . 2020 Nov 7;15(1):314

Inherited metabolic disorders : a study of incidence of inherited metabolic disorders in southern Israel : a comparison between consanguinity and non-consanguinity communities

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Orphanet J Rare Dis . 2020 Nov 25;15(1):331

Summary of the edition of 26 February 2021

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