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Constitutional genetics

Week of 23 June 2026

20 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

20 articles of 20
POLR3A
Autosomal dominantPubMed
★ Top pick

Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy

RNA Polymerase III-related peripheral neuropathy
10
NeurologyNew geneFunctional SNV
Ann Neurol 2026· JunRead
ASS1
Autosomal recessivePubMed
★ Top pick

Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I

Citrullinemia type 1 — functional variant classification
10
Metabolism / EpilepsyVUS reclassifiedFunctional SNV
PLoS Genet 2026· JunRead
Newborn screening
Autosomal recessivePubMed
★ Top pick

Reproductive Carrier Screening Detects Early Actionable Metabolic Conditions

Early actionable metabolic conditions — reproductive carrier screening
9
Newborn screeningPrenatal application
Genet Med 2026· JunRead
RNU4ATAC
Autosomal recessivePubMed
★ Top pick

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed

RNU4ATAC-opathies — expanded clinical spectrum
9
NeurodevelopmentPhenotypic expansion
Genet Med 2026· JunRead
KCNQ2
PubMed
★ Top pick

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome

Early infantile developmental and epileptic encephalopathies with burst-suppression (EIDEE-BS)
9
Metabolism / EpilepsyPhenotypic expansion
Neurology 2026· JunRead
Long-read WGS
PubMed

Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing

Long-read sequencing — ambient temperature DNA preservation
8
Long-read WGSLong-read sequencing
Genome Biol 2026· JunRead
Beckwith-Wiedemann syndrome / Congenital hyperinsulinism
PubMed

Determinants of hyperinsulinism severity in children with Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome / Congenital hyperinsulinism
8
J Clin Endocrinol Metab 2026· JunRead
TRIB1AL
PubMed

Integrative genetic and liver transcriptomic analyses identify TRIB1AL as a target for steatotic liver disease

Metabolic steatohepatitis (MASLD) — noncoding RNA therapeutic target
8
New mechanism
J Clin Endocrinol Metab 2026· JunRead
RNU4ATAC
Autosomal recessivePubMed

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort

RNU4ATAC-opathy — large international cohort
8
NeurodevelopmentPhenotypic expansionVUS reclassified
Genet Med 2026· JunRead
Inherited retinal diseases — genes with dual inheritance patterns
PubMed

Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry

Inherited retinal diseases — genes with dual inheritance patterns
8
J Med Genet 2026· JunRead
RUNX1
Autosomal dominantPubMed

Functional analysis of germline RUNX1 variants identified in individuals with suspected familial platelet disorder

Familial platelet disorder with myeloid malignancies (FPDMM)
8
VUS reclassifiedFunctional SNV
Blood Adv 2026· JunRead
GAA
Autosomal recessivePubMed

High prevalence of GAA c.[752C>T;761C>T] haplotype complicates high-risk screening for Pompe disease in the Chinese population

Pompe disease — GAA pseudodeficiency in East Asian populations
8
Newborn screeningRecurrent variant
Mol Genet Metab 2026· JunRead
Polygenic risk score
PubMed

Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease

Genetic architecture — rare/common variant interactions
8
Polygenic risk score
Am J Hum Genet 2026· JunRead
Newborn screening
PubMed

Long-term Penetrance of Disease Variants in Genes Prioritized for Genomic Newborn Screening: Evidence from Adult Biobanks

Genomic newborn screening — long-term penetrance
8
Newborn screeningPrenatal application
medRxiv 2026· JunRead
POLD1
medRxiv

Rare loss-of-function variants in POLD1, PMS1 and FAN1 modify age at onset of motor symptoms in Huntington's disease

Huntington's disease — genetic modifiers of age at onset
8
New mechanism
medRxiv 2026· JunRead
Rapid WGS
PubMed

Molecular Diagnostic Yield of Exome Sequencing and Genome Sequencing in Critically Ill Neonates and Infants: A Systematic Review and Meta-Analysis

WES/WGS diagnostic yield in critically ill neonates and infants
8
Rapid WGS
Genet Med 2026· JunRead
AIRE
PubMed

Long-term follow-up of autoimmune polyendocrine syndrome type 1 in Norway

Autoimmune polyendocrine syndrome type 1 (APS-1)
7
J Clin Endocrinol Metab 2026· JunRead
ANKRD11
Autosomal dominantPubMed

Insights into ANKRD11-related epilepsy from 163 people

KBG syndrome / ANKRD11-related epilepsy
7
NeurodevelopmentPhenotypic expansion
Epilepsia 2026· JunRead
LRP2
Autosomal recessivePubMed

Failure of endocytic flux in Donnai-Barrow syndrome caused by LRP2 p.C1400R

Donnai-Barrow syndrome
7
Functional SNVNew mechanism
JCI Insight 2026· JunRead
Cardiology
Autosomal dominantPubMed

Tackling non-canonical splicing in arrhythmogenic cardiomyopathy to reduce the uncertain significance variants burden

Arrhythmogenic cardiomyopathy — non-canonical splicing variants
7
CardiologyVUS reclassifiedDeep intronic variant
J Transl Med 2026· JunRead

References and sources

  1. POLR3A — RNA Polymerase III-related peripheral neuropathy. Ann Neurol 2026. PMID 42260910. Score 10/10. https://onlinelibrary.wiley.com/doi/10.1002/ana.78268
  2. ASS1 — Citrullinemia type 1 — functional variant classification. PLoS Genet 2026. PMID 42308225. Score 10/10. https://pubmed.ncbi.nlm.nih.gov/42308225/
  3. Early actionable metabolic conditions — reproductive carrier screening. Genet Med 2026. PMID 42299740. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42299740/
  4. RNU4ATAC — RNU4ATAC-opathies — expanded clinical spectrum. Genet Med 2026. PMID 42322192. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42322192/
  5. KCNQ2 — Early infantile developmental and epileptic encephalopathies with burst-suppression (EIDEE-BS). Neurology 2026. PMID 42190144. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42190144/
  6. Long-read sequencing — ambient temperature DNA preservation. Genome Biol 2026. PMID 42298673. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42298673/
  7. Beckwith-Wiedemann syndrome / Congenital hyperinsulinism. J Clin Endocrinol Metab 2026. PMID 41655234. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/41655234/
  8. TRIB1AL — Metabolic steatohepatitis (MASLD) — noncoding RNA therapeutic target. J Clin Endocrinol Metab 2026. PMID 41635218. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/41635218/
  9. RNU4ATAC — RNU4ATAC-opathy — large international cohort. Genet Med 2026. PMID 42322193. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42322193/
  10. Inherited retinal diseases — genes with dual inheritance patterns. J Med Genet 2026. PMID 42321002. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42321002/
  11. RUNX1 — Familial platelet disorder with myeloid malignancies (FPDMM). Blood Adv 2026. PMID 42308221. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42308221/
  12. GAA — Pompe disease — GAA pseudodeficiency in East Asian populations. Mol Genet Metab 2026. PMID 42320386. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42320386/
  13. Genetic architecture — rare/common variant interactions. Am J Hum Genet 2026. PMID 42330953. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42330953/
  14. Genomic newborn screening — long-term penetrance. medRxiv 2026. PMID 42326822. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42326822/
  15. POLD1 — Huntington's disease — genetic modifiers of age at onset. medRxiv 2026. doi:10.64898/2026.06.16.26354747. Score 8/10. https://www.medrxiv.org/content/10.64898/2026.06.16.26354747v1
  16. AIRE — Autoimmune polyendocrine syndrome type 1 (APS-1). J Clin Endocrinol Metab 2026. PMID 41678364. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/41678364/
  17. ANKRD11 — KBG syndrome / ANKRD11-related epilepsy. Epilepsia 2026. PMID 42322264. Score 7/10. https://onlinelibrary.wiley.com/doi/10.1002/epi.70351
  18. LRP2 — Donnai-Barrow syndrome. JCI Insight 2026. PMID 42024452. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42024452/
  19. Arrhythmogenic cardiomyopathy — non-canonical splicing variants. J Transl Med 2026. PMID 42323666. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42323666/
  20. WES/WGS diagnostic yield in critically ill neonates and infants. Genet Med 2026. PMID 42267533. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42267533/
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