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Constitutional genetics

Week of 18 August 2026

24 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

24 articles of 24
Preconception screening for recessive disorders
PubMed

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

Preconception screening for recessive disorders
8
Prenatal application
J Med Genet 2026· AugRead
Cardiology
PubMed

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

Actionable secondary findings (ACMG SF v3.2 list)
8
CardiologyFunctional SNVNew mechanism
J Med Genet 2026· AugRead
TREM2
PubMed

Plasticity of human microglia and brain perivascular macrophages in aging and Alzheimer's disease.

Alzheimer's disease and brain aging
7
New mechanism
Nat Genet 2026· AugRead
Rapid WGS
PubMed

Rapid Genome Sequencing Identifies Treatable Conditions in Non-Intensive Care Unit Hospitalized Children.

Treatable genetic conditions in hospitalized children outside intensive care
7
Rapid WGSTherapeutic implication
Genet Med 2026· AugRead
Metabolism / Epilepsy
PubMed

Clinical subtypes and sleep-wake evolution pattern in epilepsy manifesting as sleep-related seizures.

Epilepsy manifesting as sleep-related seizures
7
Metabolism / EpilepsyTherapeutic implication
Epilepsia 2026· AugRead
Prenatal
PubMed

Trio-Exome-Based Mendelian Inheritance Error Analysis Helps Identify Uniparental Disomies and Resolve Discordant NIPT Findings.

Uniparental disomy and discordant noninvasive prenatal testing
7
PrenatalPrenatal application
Prenat Diagn 2026· AugRead
TSC2
Autosomal dominantPubMed

Molecular Characterization of TSC1 and TSC2 Variants in a Greek Cohort of Tuberous Sclerosis Complex Patients.

Tuberous sclerosis complex
7
WGS / DiagnosisRecurrent variantPhenotypic expansion
Hum Mutat 2026· AugRead
SEPSECS
Autosomal recessivePubMed

Disease characteristics of SEPSECS deficiency: an international, retrospective, multicenter cohort study.

SEPSECS-related neurodevelopmental disorder (formerly PCH2D)
7
NeurodevelopmentPhenotypic expansionFunctional SNV
Genet Med 2026· AugRead
Cardiology
PubMed

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Pediatric cardiomyopathies
7
CardiologyPhenotypic expansion
Clin Genet 2026· AugRead
KAT6A
Autosomal dominantmedRxiv

Dominant truncating variants in KAT6A cause two neurodevelopmental disorders with opposite gene regulatory and metabolic changes.

Arboleda-Tham syndrome
7
NeurodevelopmentNew mechanismFunctional SNV
medRxiv 2026· AugRead
HNRNPK
PubMed

hnRNPK condensates facilitate enhancer-promoter looping and RNA polymerase II recruitment.

Au-Kline syndrome
6
NeurodevelopmentNew mechanismFunctional SNV
Nat Genet 2026· AugRead
KIRREL3
PubMed

Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.

Neurodevelopmental disorder
6
NeurodevelopmentPhenotypic expansionRecurrent variant
Am J Med Genet A 2026· AugRead
SOD1
PubMed

Blood SOD1 Activity in ALS Patients Receiving Tofersen Treatment.

SOD1-related amyotrophic lateral sclerosis
6
Therapeutic implicationFunctional SNV
Ann Neurol 2026· AugRead
MFN2
Variant de novomedRxiv

A loss-of-function mutation in the GTPase domain of MFN2, perverting mitochondrial dynamics, is associated with dilated cardiomyopathy

Dilated cardiomyopathy
6
CardiologyFunctional SNVNew mechanism
medRxiv 2026· AugRead
UBTF
Autosomal dominantPubMed

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

Childhood-onset neurodegeneration with brain atrophy (CONDBA)
6
NeurodevelopmentRecurrent variantFunctional SNV
J Med Genet 2026· AugRead
TNFRSF13B
Monoallélique ou biallélique, à pénétrance incomplètePubMed

Clinical Heterogeneity of TNFRSF13B Variants: A Monogenic Cause or a Genetic Modifier?

Common variable immunodeficiency and selective IgA deficiency
6
Recurrent variantPhenotypic expansion
Immunology 2026· AugRead
RNU4ATAC
Autosomal recessivePubMed

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I.

Microcephalic osteodysplastic primordial dwarfism type I (MOPD1)
6
PrenatalPrenatal applicationPhenotypic expansion
Prenat Diagn 2026· AugRead
PRCD
Autosomal recessivePubMed

Clinical and molecular features of PRCD-associated retinopathy.

Autosomal recessive retinitis pigmentosa
6
WGS / DiagnosisRecurrent variant
Acta Ophthalmol 2026· AugRead
AP4B1
Autosomal recessivePubMed

Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia.

Autosomal recessive spastic paraplegia 47 (AP-4 complex deficiency)
6
VUS reclassifiedFunctional SNV
Hum Mutat 2026· AugRead
SLC20A2
Autosomal recessivePubMed

Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification.

Severe neurodevelopmental disorder with brain calcification
6
NeurodevelopmentPhenotypic expansionFunctional SNV
J Hum Genet 2026· AugRead
Prenatal
PubMed

When Fetal Anomalies Lead to Prognostic Clarification: An Underrecognized Application of Exome Sequencing.

Fetal anomalies — prognostic clarification by exome sequencing
6
PrenatalPrenatal application
Prenat Diagn 2026· AugRead
Cardiology
PubMed

Five-year outcomes of next-generation sequencing implementation at a Brazilian public health system reference centre for rare diseases.

Rare diseases — implementation of next-generation sequencing in a public health system
5
Cardiology
Front Genet 2026· AugRead
PLCG2
PubMed

PLCG2 downregulation impairs synaptic function and increases Alzheimer's disease hallmarks in neuronal cultures.

Alzheimer's disease — genetic risk factor
5
NeurodevelopmentFunctional SNV
Nat Genet 2026· AugRead
CLCN1
Autosomal recessivePubMed

Novel deep intronic variant in CLCN1 causing autosomal recessive myotonia congenita.

Autosomal recessive myotonia congenita (Becker disease)
5
Deep intronic variantFunctional SNV
Neurogenetics 2026· AugRead

References and sources

  1. Preconception screening for recessive disorders. J Med Genet 2026. PMID 42586782. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42586782/
  2. Actionable secondary findings (ACMG SF v3.2 list). J Med Genet 2026. PMID 42586783. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42586783/
  3. TREM2 — Alzheimer's disease and brain aging. Nat Genet 2026. PMID 42581323. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42581323/
  4. Treatable genetic conditions in hospitalized children outside intensive care. Genet Med 2026. PMID 42583753. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42583753/
  5. Epilepsy manifesting as sleep-related seizures. Epilepsia 2026. PMID 42579524. Score 7/10. https://onlinelibrary.wiley.com/doi/10.1002/epi.70447?af=R
  6. Uniparental disomy and discordant noninvasive prenatal testing. Prenat Diagn 2026. PMID 42584023. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42584023/
  7. TSC2 — Tuberous sclerosis complex. Hum Mutat 2026. PMID 42577675. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42577675/
  8. SEPSECS — SEPSECS-related neurodevelopmental disorder (formerly PCH2D). Genet Med 2026. PMID 42603098. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42603098/
  9. Pediatric cardiomyopathies. Clin Genet 2026. PMID 42596595. Score 7/10. https://onlinelibrary.wiley.com/doi/10.1111/cge.70230?af=R
  10. KAT6A — Arboleda-Tham syndrome. medRxiv 2026. doi:10.64898/2026.08.11.26358095. Score 7/10. https://www.medrxiv.org/content/10.64898/2026.08.11.26358095v1
  11. HNRNPK — Au-Kline syndrome. Nat Genet 2026. PMID 42587094. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42587094/
  12. KIRREL3 — Neurodevelopmental disorder. Am J Med Genet A 2026. PMID 42590949. Score 6/10. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.70264?af=R
  13. SOD1 — SOD1-related amyotrophic lateral sclerosis. Ann Neurol 2026. PMID 42581415. Score 6/10. https://onlinelibrary.wiley.com/doi/10.1002/ana.78328?af=R
  14. MFN2 — Dilated cardiomyopathy. medRxiv 2026. doi:10.64898/2026.08.10.26360061. Score 6/10. https://www.medrxiv.org/content/10.64898/2026.08.10.26360061v1
  15. UBTF — Childhood-onset neurodegeneration with brain atrophy (CONDBA). J Med Genet 2026. PMID 42601187. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42601187/
  16. TNFRSF13B — Common variable immunodeficiency and selective IgA deficiency. Immunology 2026. PMID 42601324. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42601324/
  17. RNU4ATAC — Microcephalic osteodysplastic primordial dwarfism type I (MOPD1). Prenat Diagn 2026. PMID 42598898. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42598898/
  18. PRCD — Autosomal recessive retinitis pigmentosa. Acta Ophthalmol 2026. PMID 42593959. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42593959/
  19. AP4B1 — Autosomal recessive spastic paraplegia 47 (AP-4 complex deficiency). Hum Mutat 2026. PMID 42597316. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42597316/
  20. SLC20A2 — Severe neurodevelopmental disorder with brain calcification. J Hum Genet 2026. PMID 42601517. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42601517/
  21. Fetal anomalies — prognostic clarification by exome sequencing. Prenat Diagn 2026. PMID 42604848. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42604848/
  22. Rare diseases — implementation of next-generation sequencing in a public health system. Front Genet 2026. PMID 42583500. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42583500/
  23. PLCG2 — Alzheimer's disease — genetic risk factor. Nat Genet 2026. PMID 42601455. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42601455/
  24. CLCN1 — Autosomal recessive myotonia congenita (Becker disease). Neurogenetics 2026. PMID 42599553. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42599553/
Previous week
11 August 2026