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Edition of 07 February 2020

New Syndromes

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

A new study recently published in the Journal of Clinical Investigation identified mutations affecting the mitochondrial single-strand binding protein (SSBP1) in 4 families with dominant and 1 with recessive inheritance. The study reported an optic atrophy spectrum disorder, including retinal macular dystrophy and kidney insufficiency leading to transplantation, associated with mitochondrial DNA (mtDNA) depletion without accumulation of multiple deletions. Inherited optic neuropathies include complex phenotypes, mostly driven by mitochondrial dysfunction. This study showed that this previously unrecognized disease of mtDNA maintenance implicates SSBP1 mutations as a cause of human pathology.

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J Clin Invest. 2020 Jan 2;130(1):108-125

Homozygous null TBX4 mutations lead to posterior amelia with pelvic and pulmonary hypoplasia

A recent study published in The American Journal of Human Genetics identified a striking clinical entity in four fetuses with complete posterior amelia with pelvis and pulmonary hypoplasia.Through exome sequencing, the study found that posterior amelia with pelvis and pulmonary hypoplasia syndrome is caused by homozygous TBX4 inactivating mutations during embryogenesis in humans. In humans, heterozygous loss-of-function TBX4 mutations cause dominant small patella syndrome due to haploinsufficiency. This study showed that small patella syndrome and posterior amelia with pelvis and pulmonary hypoplasia are allelic diseases of TBX4 deficiency and that TBX4 is an essential transcription factor for organogenesis of the lungs, pelvis, and hindlimbs in humans.

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Am J Hum Genet. 2019 Dec 5;105(6):1294-1301

A pathogenic variant in the PISD gene causes the Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development

A new study published in the Genetics in Medicine identified four individuals in two unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature. The phenotype precisely matched that of an individual of Azorean descent published in 1986 by Liberfarb and coworkers. Affected individuals shared a 3.36-Mb region of autozygosity on chromosome 22q12.2, including a 10-bp deletion, immediately upstream of the last exon of the PISD (phosphatidylserine decarboxylase) gene. Sequencing of PISD from paraffin-embedded tissue from the 1986 cases revealed the identical homozygous variant. The study highlighted the link between phospholipid metabolism and bone formation, sensory defects, and cerebral development, while raising the possibility of therapeutic phospholipid replacement.

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Genet Med. 2019 Dec;21(12):2734-2743

New Genes

Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature

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Hum Mutat. 2020 Jan;41(1):196-202

Autosomal dominant intermediate Charcot-Marie-Tooth disease is caused by mutations in ATP1A1

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To read more about “Autosomal dominant intermediate Charcot-Marie-Tooth disease”

Am J Hum Genet. 2018 Mar 1;102(3):505-514

Leigh syndrome : abnormal carnitine acetyltransferase function is caused by CRAT missense variants in an early-onset case

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To read more about “Leigh syndrome”

Hum Mutat. 2020 Jan;41(1):110-114

Lethal neonatal dilated cardiomyopathy is caused by homozygous damaging SOD2 variant

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To read more about “Mitochondrial disease with dilated cardiomyopathy”

J Med Genet. 2020 Jan;57(1):23-30

Isolated postaxial polydactyly A/B is caused by heterozygous pathogenic variants in GLI1

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To read more about “Postaxial polydactyly type A”
To read more about “Postaxial polydactyly type B”

J Med Genet. 2020 Jan;57(1):23-30

A skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features is caused by biallelic disruption of PKDCC

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J Med Genet. 2019 Dec;56(12):850-854

Clinical Research

Down syndrome : a study described the prevalence of unexpected abnormal echocardiograms in adolescents

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To read more about “Down syndrome”

Am J Med Genet A. 2019 Dec;179(12):2420-2424

Craniopharyngioma : a study showed that adult craniopharyngioma is associated with a complex sociological and psychological burden and hypothalamic dysfunction emphasizing the need for a wider treatment approach

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To read more about “Craniopharyngioma”

J Clin Endocrinol Metab. 2020 Jan 1;105(1)

Angelman syndrome : an overview of health issues and development in a large clinical cohort of children

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To read more about “Angelman syndrome”

Am J Med Genet A. 2020 Jan;182(1):53-63

Kabuki syndrome : a study of prenatal and perinatal history

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To read more about “Kabuki syndrome”

Am J Med Genet A. 2020 Jan;182(1):85-92

Glycogen storage disease due to glycogen debranching enzyme deficiency : a study showed that liver fibrosis could occur at an early age, and may explain the decrease in aminotransferases and glucose tetrasaccharide with age

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To read more about “Glycogen storage disease due to glycogen debranching enzyme deficiency”

Genet Med. 2019 Dec;21(12):2686-2694

Mucopolysaccharidosis type 1 : a study showed that growth curves would be useful in evaluation of long-term outcomes of therapeutics interventions and would provide a foundation for understanding the pathogenesis of skeletal disease

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To read more about “Mucopolysaccharidosis type 1”

Am J Med Genet A. 2019 Dec;179(12):2425-2432

Neurofibromatosis type 1 or Noonan syndrome : a study of emotional functioning among children showed that self-report ratings by children generally correlated with parent ratings but symptom severity was less pronounced

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To read more about “Neurofibromatosis type 1”
To read more about “Noonan syndrome”

Am J Med Genet A. 2019 Dec;179(12):2433-2446

Marfan syndrome : a double-blind, placebo-controlled randomised trial showed that irbesartan is associated with a reduction in the rate of aortic dilatation in children and young adults and could reduce the incidence of aortic complications

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To read more about “Marfan syndrome”

Lancet. 2020 Dec 21;394(10216):2263-2270

Systemic lupus erythematosus : a randomised double-blind placebo controlled trial showed that low-dose IL-2 might be effective and tolerated

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To read more about “Systemic lupus erythematosus”

Ann Rheum Dis. 2020 Jan;79(1):141-149

Eosinophilic esophagitis : a phase 2 randomized trial showed that dupilumab increased esophageal distensibility and was generally well tolerated

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To read more about “Eosinophilic esophagitis”

https://www.ncbi.nlm.nih.gov/pubmed/31593702

Biomarkers

Acromegaly : a prospective study of patients before and after treatment showed that fibroblast activation protein is a growth hormone target

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To read more about “Acromegaly”

J Med Genet. 2019 Dec;56(12):850-854

Fabry disease : protein biomarkers could be helpful and used in conjunction with plasma lyso-Gb3 for monitoring of therapy or disease progression

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To read more about “Fabry disease”

J Med Genet. 2020 Jan;57(1):38-47

Gastrointestinal and Liver Diseases : a review of the effects of protein glycosylation in regulation of gastrointestinal and liver functions and how alterations in glycosylation serve as diagnostic or prognostic factors

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Gastroenterology. 2020 Jan;158(1):95-110

Therapeutic Approaches

Autosomal recessive congenital ichthyosis : mice model with conditional Alox12b knockout could be a useful tool for the development of pathogenesis-directed therapeutic strategies

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To read more about “Autosomal recessive congenital ichthyosis”

J Invest Dermatol. 2020 Jan;140(1):249-253.e6

Hemolytic uremic syndrome : intravenous administration of Muse cells could be a candidate therapeutic approach for preventing fatal encephalopathy after Shiga toxin-producing Escherichia coli infection in mice

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To read more about “Hemolytic uremic syndrome”

Mol Ther. 2020 Jan 8;28(1):100-118

Rett syndrome : a review of transcriptomic and proteomic studies of Rett syndrome mouse models identiying common signaling pathways and cellular functions as potential therapeutic targets

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To read more about “Rett syndrome”

Hum Mutat. 2019 Dec;40(12):2184-2196

Mucopolysaccharidosis type 7 : intrathecal AAVrh10 corrects biochemical and histological hallmarks of mucopolysaccharidosis VII mice and improves behavior and survival

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To read more about “Mucopolysaccharidosis type 7”

Hum Mol Genet. 2019 Nov 1;28(21):3610-3624

X-linked Charcot-Marie-Tooth disease type 1 : gene replacement therapy after neuropathy onset provides therapeutic benefit in mice model

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To read more about “X-linked Charcot-Marie-Tooth disease type 1”

Hum Mol Genet. 2019 Nov 1;28(21):3528-3542

Diagnostic Appraoches

High-grade dysplasia in patients with Barrett esophagus : a systematic review and meta-analysis estimating neoplasia detection rate in patients based on index endoscopy

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To read more about “High-grade dysplasia in patients with Barrett esophagus”

Gut. 2019 Dec;68(12):2122-2128

3-methylglutaconic aciduria : delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies could be a potential pitfall for the diagnosis

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To read more about “3-methylglutaconic aciduria”

Am J Med Genet A. 2020 Jan;182(1):64-70

MYH9-related disease : a high throughput sequencing-based strategy is a reliable method to reach a conclusive diagnosis in clinical practice

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To read more about “MYH9-related disease”

Hum Mutat. 2020 Jan;41(1):277-290

Desbuquois syndrome : utilization of high-density SNP array to map homozygosity and identify the gene in prenatal diagnosis of desbuquois dysplasia type 1

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To read more about “Desbuquois syndrome”

Am J Med Genet A. 2019 Dec;179(12):2490-2493

Limb abnormalities syndrome and Fanconi anaemia : computer-assisted image analysis improves diagnostic precision

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To read more about “Fanconi anemia”

Eur J Hum Genet. 2019 Dec;27(12):1827-1835

Patient Management and Therapy

Wolf-Hirschhorn syndrome : update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay

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To read more about “Wolf-Hirschhorn syndrome”

Am J Med Genet A. 2020 Jan;182(1):257-267

Sydenham’s chorea : an update on pathophysiology, clinical features and management

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To read more about “Sydenham chorea”

Expert Opin Orphan Drugs. 2019 Oct 21;7(11): 501-511

Recommendations

Metastatic gastric cancer : pan-asian adapted ESMO clinical practice guidelines for the management of patients

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To read more about “Hepatocellular carcinoma”

Ann Oncol. 2019 Jan 1;30(1):19-33

Acute lymphoblastic leukemia : pediatric acute lymphoblastic leukemia, version 2.2020, NCCN clinical practice guidelines in oncology

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To read more about “Acute lymphoblastic leukemia :”

J Natl Compr Canc Netw. 2020 Jan;18(1):81-112

Medulloblastoma : EANO-EURACAN clinical practice guideline for diagnosis, treatment, and follow-up of post-pubertal and adult patients

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To read more about “Medulloblastoma”

Lancet Oncol. 2019 Dec;20(12):e715-e728

Epidemiology

Class I glucose-6-phosphate dehydrogenase deficiency : chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017

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To read more about “Class I glucose-6-phosphate dehydrogenase deficiency”

Hum Mutat. 2020 Jan;41(1):212-221

Creutzfeldt-Jakob disease : a systematic review of global incidence, prevalence, infectivity, and incubation

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To read more about “Sporadic Creutzfeldt-Jakob disease”

Lancet Infect Dis. 2020 Jan;20(1):e2-e10

Eosinophilic esophagitis : epidemiology and implications of concurrent diagnosis of eosinophilic oesophagitis and IBD based on a prospective population-based analysis

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To read more about “Eosinophilic esophagitis”

Gut. 2019 Dec;68(12):2152-2160

Trisomy 13 and 18 : a multi-registry population based analysis of prevalence and mortality

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To read more about “Trisomy 13”
To read more about “Trisomy 18”

Am J Med Genet A. 2019 Dec;179(12):2382-2392

Summary of the edition of 07 February 2020

Editorial
Political news
Scientific news
And also...