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Constitutional genetics

Week of 3 June 2026

16 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

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16 articles of 16
BORCS5
Autosomique récessifPubMed
★ Top pick

Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction.

Neurodevelopmental and neurodegenerative spectrum with lysosomal dysfunction
9
/10
NeurodevelopmentNew geneNew mechanism
J Clin Invest 2026· JunRead
PHEX
Lié à l'XPubMed

Safety, tolerability, pharmacokinetics, and efficacy of burosumab in infants with X-linked hypophosphataemia: an open-label, multicentre, non-randomised study.

X-linked hypophosphataemia (XLH) — infants
8
/10
Therapeutic implication
Lancet Diabetes Endocrinol 2026· JunRead
LGI1
PubMed

Gene burden meta-analysis of 748 879 individuals identifies LGI1-ADAM23 protein complex association with epilepsy.

Epilepsy — gene burden meta-analysis, LGI1-ADAM23 protein complex
8
/10
Metabolism / EpilepsyNew gene
Epilepsia 2026· MayRead
WGS / Diagnosis
PubMed

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.

Dystonia — molecular diagnostics by fibroblast transcriptomics
8
/10
WGS / DiagnosisFunctional SNV
Ann Neurol 2026· JunRead
SMARCB1
Autosomique dominantPubMed

Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental Disorders.

Coffin-Siris syndrome and SMARCB1-associated developmental disorders
7
/10
NeurodevelopmentPhenotypic expansion
Genet Med 2026· MayRead
PRKN
Autosomique récessifPubMed

Alternative Translation Initiation in PRKN Delays the Onset of Parkinson's Disease and Offers a Therapeutic Target.

PRKN autosomal recessive Parkinson's disease
7
/10
New mechanismFunctional SNV
Ann Neurol 2026· MayRead
SOD1
Autosomique dominantPubMed
⭐ À la une

High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis.

SOD1-ALS — biobank prevalence and implications for preemptive screening
7
/10
Therapeutic implication
Ann Neurol 2026· JunRead
LRRK2
Autosomique dominantPubMed

The Age at Onset of LRRK2 p.Gly2019Ser Parkinson's Disease Across Ancestries and Countries of Origin.

LRRK2 p.Gly2019Ser Parkinson's disease — age at onset by ancestry
7
/10
Recurrent variant
Ann Neurol 2026· MayRead
FGF14
Autosomique dominantPubMed

GAA-FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult-Onset Ataxia.

GAA-FGF14 ataxia (SCA27B) — adult-onset autosomal dominant cerebellar ataxia
6
/10
Long-read WGSRepeat expansionLong-read sequencing
Clin Genet 2026· MayRead
LEPR
PubMed

Genotype-Phenotype Spectrum of Non-Syndromic Monogenic Obesity in a National Paediatric Cohort.

Non-syndromic monogenic obesity — leptin-melanocortin pathway
6
/10
WGS / DiagnosisRecurrent variant
Pediatr Obes 2026· JunRead
Rapid WGS
PubMed

Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center.

Rapid genome/exome sequencing in inpatients — clinical impact
6
/10
Rapid WGSClinical pipeline
Am J Med Genet A 2026· JunRead
Long-read WGS
PubMed

Novel Haplotype-Based Noninvasive Prenatal Diagnosis for Recessive Single-Gene Disorders: A Proof-of-Concept Study.

Noninvasive prenatal diagnosis — recessive single-gene disorders
6
/10
Long-read WGSPrenatal applicationLong-read sequencing
Clin Genet 2026· JunRead
WGS / Diagnosis
PubMed

Identification of monogenic variants in steroid-resistant and steroid-sensitive nephrotic syndrome.

Steroid-resistant nephrotic syndrome (SRNS) — molecular diagnosis by exome sequencing
6
/10
WGS / Diagnosis
Pediatr Nephrol 2026· JunRead
WGS / Diagnosis
PubMed

A Proposed Clinical Diagnostic Framework for Short Telomere Syndrome.

Short Telomere Syndrome
5
/10
WGS / DiagnosisNew recommendation
Clin Genet 2026· MayRead
Rapid WES
PubMed

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure.

Pediatric cardiomyopathy with acute heart failure — rapid exome sequencing
5
/10
Rapid WESTherapeutic implication
Am J Med Genet A 2026· JunRead
RPE65
Autosomique récessifPubMed

Gene therapy outcomes in young patients with RPE65-retinal degeneration.

RPE65-associated Leber congenital amaurosis (RPE65-LCA)
4
/10
Therapeutic implication
Can J Ophthalmol 2026· JunRead

References and sources

  1. BORCS5 — Neurodevelopmental and neurodegenerative spectrum with lysosomal dysfunction. J Clin Invest 2026. PMID 42012897. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42012897/
  2. PHEX — X-linked hypophosphataemia (XLH) — infants. Lancet Diabetes Endocrinol 2026. PMID 42044650. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42044650/
  3. SMARCB1 — Coffin-Siris syndrome and SMARCB1-associated developmental disorders. Genet Med 2026. PMID 42206491. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42206491/
  4. Short Telomere Syndrome. Clin Genet 2026. PMID 42219160. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42219160/
  5. FGF14 — GAA-FGF14 ataxia (SCA27B) — adult-onset autosomal dominant cerebellar ataxia. Clin Genet 2026. PMID 42204984. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42204984/
  6. LGI1 — Epilepsy — gene burden meta-analysis, LGI1-ADAM23 protein complex. Epilepsia 2026. PMID 42216960. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42216960/
  7. PRKN — PRKN autosomal recessive Parkinson's disease. Ann Neurol 2026. PMID 41724727. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/41724727/
  8. LEPR — Non-syndromic monogenic obesity — leptin-melanocortin pathway. Pediatr Obes 2026. PMID 42210527. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42210527/
  9. SOD1 — SOD1-ALS — biobank prevalence and implications for preemptive screening. Ann Neurol 2026. PMID 41852184. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/41852184/
  10. Rapid genome/exome sequencing in inpatients — clinical impact. Am J Med Genet A 2026. PMID 41704091. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/41704091/
  11. Noninvasive prenatal diagnosis — recessive single-gene disorders. Clin Genet 2026. PMID 41681029. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/41681029/
  12. RPE65 — RPE65-associated Leber congenital amaurosis (RPE65-LCA). Can J Ophthalmol 2026. PMID 41679721. Score 4/10. https://pubmed.ncbi.nlm.nih.gov/41679721/
  13. Dystonia — molecular diagnostics by fibroblast transcriptomics. Ann Neurol 2026. PMID 41623120. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/41623120/
  14. LRRK2 — LRRK2 p.Gly2019Ser Parkinson's disease — age at onset by ancestry. Ann Neurol 2026. PMID 41735653. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/41735653/
  15. Steroid-resistant nephrotic syndrome (SRNS) — molecular diagnosis by exome sequencing. Pediatr Nephrol 2026. PMID 41575523. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/41575523/
  16. Pediatric cardiomyopathy with acute heart failure — rapid exome sequencing. Am J Med Genet A 2026. PMID 41572441. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/41572441/
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