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Edition of 15 February 2022

New Syndromes

PRKG2 mutations cause a novel acromesomelic dysplasia

A new study published in the Journal of Medical Genetics identified bi-allelic variants, in PRKG2 (protein kinase cGMP-dependent type II gene), which encodes for cGKII, a downstream mediator of natriuretic peptide and of its receptor (known for its pivotal role in chondrogenic differentiation and endochondral bone growth), have been reported. The two girls (unrelated) present severe short stature due to acromesomelic limb shortening, brachydactyly, mild to moderate platyspondyly and progressively increasing metaphyseal alterations of the long bones. Functional characterisation (clinical and radiological features) was undertaken for the identified variants, and identified a new acromesomelic dysplasia, PRKG2 type (AMDP).

J Med Genet . 2022 Jan;59(1):28-38

PRDM13 mutation implied in syndromes association (congenital hypogonadotropic hypogonadism, and cerebellar hypoplasia)

A new study published in the Journal of Clinical Investigation identified mono-allelic and recessive variant, in the gene coding for PRDM13 (a positive regulatory domain), within 3 patients (from 2 unrelated families in Malta) expressing intellectual disability, ataxia with cerebellar hypoplasia, scoliosis, and delayed puberty with congenital hypogonadotropic hypogonadism (CHH). Various analysis (expression studies, anatomo-pathology description of mouse brains) provide a mechanistic explanation for the cooccurrence of CHH and cerebellar hypoplasia in this syndrome (with PRDM13 identified as a critical regulator of GABAergic cell fate in the cerebellum and of hypothalamic kisspeptin neuron development; first study to link PRDM13-mediated regulation of Kiss1 neurons to CHH in humans).

J Clin Invest . 2021 Dec 15;131(24):e141587

ZBTB7A mutations cause an association between a neurodevelopmental disorder, and symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal haemoglobin

A new study published in the American Journal of Human Genetics identified bi-allelic variant in ZBTB7A (which encodes the transcription factor Zinc finger, and BTB-domain containing protein 7A), within 12 individuals (with ages 3 to 37 years, including three related ones) who express a consistent phenotype of intellectual disability (ID), macrocephaly, and overgrowth of adenoid tissue. ID was generally mild. This first report, for this novel syndromic neurodevelopmental disorder, describes various clinical data on a cohort of individuals.

Am J Med Genet A . 2022 Jan;188(1):272-282

New Genes

IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder

To read more about “Autosomal dominant dopa-responsive dystonia”

Eur J Hum Genet . 2021 Dec;29(12):1833-1837

EPHB4 mutation causes adult and adolescent-onset primary lymphedema

To read more about “Meige disease”

Am J Med Genet A . 2021 Dec;185(12):3810-3813

A homozygous GRIN1 null variant causes a more severe phenotype of early infantile epileptic encephalopathy

To read more about “Early infantile epileptic encephalopathy”

Am J Med Genet A . 2022 Feb;188(2):595-599

Biomarkers

Early and accurate detection of cholangiocarcinoma in patients with primary sclerosing cholangitis by methylation markers in bile

To read more about “Primary sclerosing cholangitis”

Hepatology . 2022 Jan;75(1):59-73

Sorbitol is a Severity Biomarker for PMM2-CDG with Therapeutic Implications

To read more about “PMM2-CDG”

Ann Neurol . 2021 Dec;90(6):887-900

Clinical Research

Natural History of Leigh Syndrome: A Study of Disease Burden and Progression

To read more about “Leigh syndrome”

Ann Neurol . 2022 Jan;91(1):117-130

Phenotypes in adult patients with Rett syndrome: Results of a 13-year experience and insights into healthcare transition

To read more about “Rett syndrome”

J Med Genet . 2022 Jan;59(1):39-45

Adolescents and young adults with neurofibromatosis type 1: A descriptive study of adaptive functioning

To read more about “Neurofibromatosis type 1”

Am J Med Genet A . 2022 Feb;188(2):488-497

Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome

To read more about “Robinow syndrome”

Am J Med Genet A . 2021 Dec;185(12):3576-3583

Psychiatric disorders in individuals with neurofibromatosis 1 in Denmark: A nationwide register-based cohort study

To read more about “Neurofibromatosis type 1”

Am J Med Genet A . 2021 Dec;185(12):3706-3716

Bone tissue homeostasis and risk of fractures in Costello syndrome: A 4-year follow-up study

To read more about “Costello syndrome”

Am J Med Genet A . 2022 Feb;188(2):422-430

Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants

To read more about “3M syndrome”

Eur J Med Genet . 2021 Dec;64(12):104346

Incidence and mortality rates of intracranial hemorrhage in hemophilia: a systematic review and meta-analysis

To read more about “Hemophilia”

Blood . 2021 Dec 30;138(26):2853-2873

Outcomes of pregnancy in autoimmune hepatitis: A population-based study

To read more about “Autoimmune hepatitis”

Hepatology . 2022 Jan;75(1):5-12

Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence

To read more about “Isolated Pierre Robin syndrome”

Am J Med Genet A . 2021 Dec;185(12):3694-3700

Cardiovascular Disease Risk Factors and Metabolic Morbidity in a Longitudinal Study of Congenital Adrenal Hyperplasia

To read more about “Congenital adrenal hyperplasia”

J Clin Endocrinol Metab . 2021 Nov 19;106(12):e5247-e5257

A phase 3, open-label, randomized study of asciminib, a STAMP inhibitor, vs bosutinib in CML after 2 or more prior TKIs

To read more about “Chronic myeloid leukemia”

Blood . 2021 Nov 25;138(21):2031-2041

Phase IIa Global Study Evaluating Rituximab for the Treatment of Pediatric Patients With Granulomatosis With Polyangiitis or Microscopic Polyangiitis

To read more about “Granulomatosis with polyangiitis”

Arthritis Rheumatol . 2022 Jan;74(1):124-133

Ponatinib dose-ranging study in chronic-phase chronic myeloid leukemia: a randomized, open-label phase 2 clinical trial

To read more about “Chronic myeloid leukemia”

Blood . 2021 Nov 25;138(21):2042-2050

Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel–Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study

To read more about “CLOVES syndrome”
To read more about “Klippel-Trénaunay syndrome”

Genet Med . 2021 Dec;23(12):2433-2442

Impact of the Surgical Approach to Thymectomy Upon Complete Stable Remission Rates in Myasthenia Gravis: A Meta-analysis

To read more about “Myasthenia gravis”

Neurology . 2021 Jul 27;97(4):e357-e368

Variation in Treatment of Children Hospitalized With New-Onset Systemic Juvenile Idiopathic Arthritis in the US

To read more about “Systemic-onset juvenile idiopathic arthritis”

Arthritis Care Res (Hoboken) . 2021 Dec;73(12):1714-1721

Tasimelteon safely and effectively improves sleep in Smith–Magenis syndrome: a double-blind randomized trial followed by an open-label extension

To read more about “Smith-Magenis syndrome”

Genet Med . 2021 Dec;23(12):2426-2432

Measurable residual disease does not preclude prolonged progression-free survival in CLL treated with ibrutinib

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

Blood . 2021 Dec 30;138(26):2810-2827

Up-front carfilzomib, lenalidomide, and dexamethasone with transplant for patients with multiple myeloma: the IFM KRd final results

To read more about “Multiple myeloma”

Blood . 2021 Jul 15;138(2):113-121

Diagnostic Approaches

Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.

Eur J Hum Genet . 2022 Jan;30(1):117-125

Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain

To read more about “Autosomal recessive primary microcephaly”

Eur J Hum Genet . 2022 Jan;30(1):101-110

Facial recognition accuracy in photographs of Thai neonates with Down syndrome among physicians and the Face2Gene application.

To read more about “Down syndrome”

Therapeutic Approaches

Fibrous dysplasia animal models: A systematic review

To read more about “Fibrous dysplasia of bone”

Bone . 2022 Feb;155:116270

Antisense oligonucleotide therapy reduces seizures and extends life span in an SCN2A gain-of-function epilepsy model

To read more about “Generalized epilepsy with febrile seizures-plus”
To read more about “Benign familial neonatal-infantile seizures”
To read more about “Early infantile epileptic encephalopathy”
To read more about “Malignant migrating focal seizures of infancy”
To read more about “Benign familial infantile epilepsy”
To read more about “Infantile spasms syndrome”

J Clin Invest . 2021 Dec 1;131(23):e152079

High-dose rifampin improves bactericidal activity without increased intracerebral inflammation in animal models of tuberculous meningitis

To read more about “Tuberculous meningitis”

J Clin Invest . 2022 Jan 27;e155851

Novel aspects of regulatory T cell dysfunction as a therapeutic target in giant cell arteritis

To read more about “Giant cell arteritis”

Ann Rheum Dis . 2022 Jan;81(1):124-131

Patient Management and Therapy

How I treat chronic lymphocytic leukemia after venetoclax

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

The Future of Somatostatin Receptor Ligands in Acromegaly

To read more about “Acromegaly”

J Clin Endocrinol Metab . 2022 Jan 18;107(2):297-308

Advances in Treatment of Progressive Multifocal Leukoencephalopathy

To read more about “Progressive multifocal leukoencephalopathy”

Ann Neurol . 2021 Dec;90(6):865-873

Genetics in primary congenital glaucoma: Implications in disease management and counseling

To read more about “Congenital glaucoma”

Eur J Med Genet . 2022 Jan;65(1):104378

Leukemia after gene therapy for sickle cell disease: insertional mutagenesis, busulfan, both, or neither

To read more about “Sickle cell disease and related diseases”

Blood . 2021 Sep 16;138(11):942-947

Primary vitreoretinal lymphoma: a diagnostic and management challenge

To read more about “Primary central nervous system lymphoma”

https://pubmed.ncbi.nlm.nih.gov/34036310/

Gene therapy for hemophilia: a review on clinical benefit, limitations, and remaining issues

To read more about “Hemophilia”

Blood . 2021 Sep 16;138(11):923-931

Recommendations

2021 Update on MRD in acute myeloid leukemia: a consensus document from the European LeukemiaNet MRD Working Party

To read more about “Acute myeloid leukemia”

Blood . 2021 Dec 30;138(26):2753-2767

The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care

To read more about “Hereditary hemorrhagic telangiectasia”

Eur J Med Genet . 2022 Jan;65(1):104370

Epidemiology

Prevalence of Primary Sclerosing Cholangitis in Patients With Inflammatory Bowel Disease: A Systematic Review and Meta-analysis

To read more about “Primary sclerosing cholangitis”

Gastroenterology . 2021 Dec;161(6):1865-1877

Causes of death in patients with Down syndrome in 2014–2016: A population study in Japan

To read more about “Down syndrome”

Am J Med Genet A . 2022 Jan;188(1):224-236

Quality of Life

International Multicenter Validation Study of the SAGIT®Instrument in Acromegaly

To read more about “Acromegaly”

J Clin Endocrinol Metab . 2021 Nov 19;106(12):3555-3568

The transition to independence and adult care for women with Turner syndrome: Current status and priorities of 1338 women and parents

To read more about “Turner syndrome”

Am J Med Genet A . 2022 Feb;188(2):400-413.

Summary of the edition of 15 February 2022

Editorial
Political news
Scientific news
And also...