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Constitutional genetics

Week of 10 June 2026

25 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

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25 articles of 25
TMEM63B
Autosomal recessivePubMed
★ Top pick

Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder

Syndromic surfactant dysfunction disorder (pediatric interstitial lung disease)
10
/10
New geneFunctional SNV
Am J Hum Genet 2026· JunRead
FLNB
Autosomal recessivePubMed
★ Top pick

Biallelic pathogenic variants in FLNB are associated with paediatric steroid-resistant nephrotic syndrome via podocyte cytoskeletal dysfunction

Pediatric steroid-resistant nephrotic syndrome (SRNS)
9
/10
New geneFunctional SNV
J Med Genet 2026· JunRead
FBN1
Autosomal dominantPubMed

Genetic yield of targeted diagnostic screening in a large European cohort of 368 thoracic aortic dissection patients

Thoracic aortic dissection, hereditary aortopathies (FBN1, ACTA2, COL3A1, TGFBR1)
8
/10
WGS / DiagnosisRecurrent variant
Eur J Hum Genet 2026· JunRead
WDTC1
Autosomal dominantPubMed

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Neurodevelopmental syndrome with intellectual disability, epilepsy, and variable obesity (WDTC1)
8
/10
NeurodevelopmentNew gene
Clin Genet 2026· JunRead
DUX4
bioRxiv

The D4Z4caster DNA methylation signature identifies individuals at epigenetic risk for facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy (FSHD1 and FSHD2)
8
/10
New mechanism
bioRxiv 2026· MayRead
WGS / Diagnosis
medRxiv

Stratified evaluation of blood RNA sequencing in a rare disease cohort

Rare diseases / diagnostic odyssey (blood RNA-seq pipeline)
8
/10
WGS / DiagnosisDeep intronic variantDiagnostic yield
medRxiv 2026· MayRead
PUS7
Autosomal recessivePubMed

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients

Intellectual disability syndrome with growth retardation and microcephaly (PUS7)
8
/10
NeurodevelopmentPhenotypic expansion
Clin Genet 2026· JunRead
YTHDC2
Autosomal recessivePubMed

Novel variants in YTHDC2 cause non-obstructive azoospermia by disrupting the mitotic-to-meiotic transition in humans and mice

Non-obstructive azoospermia, male infertility
8
/10
New geneFunctional SNV
Hum Reprod 2026· JunRead
WGS / Diagnosis
PubMed

Genome sequencing identifies monogenic causes in adults with metabolic diseases

Monogenic metabolic diseases in adults (hyperlipidemia, type 2 diabetes, hypothyroidism)
8
/10
WGS / Diagnosis
J Endocr Soc 2026· JulRead
Alzheimer's disease and related dementias (polygenic genetic architecture)
PubMed

Consensus meta-analysis of genome-wide association studies for Alzheimer's disease and related dementias

Alzheimer's disease and related dementias (polygenic genetic architecture)
7
/10
Nat Genet 2026· JunRead
Neurodevelopment
PubMed

Neurodevelopmental copy-number variants increase risk of internalizing and cardiometabolic multimorbidity: Findings from the UK Biobank

Neurodevelopmental CNVs, cardiometabolic and psychiatric multimorbidity in adulthood
7
/10
NeurodevelopmentPhenotypic expansion
Am J Hum Genet 2026· JunRead
SCN1A
PubMed

ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel

Sodium channel-related epilepsies (SCN1A/Dravet, SCN2A, SCN3A, SCN8A, SCN1B)
7
/10
Metabolism / EpilepsyVUS reclassified
Genet Med 2026· JunRead
CEBPA
Autosomal dominantPubMed

Location matters: topography of germline CEBPA variants predicts variable outcomes in familial acute myeloid leukaemia-a rare disease perspective

Familial germline CEBPA acute myeloid leukemia
7
/10
Recurrent variant
J Med Genet 2026· MayRead
PSMD2
De novoJournal

De Novo 3q27.1 Microdeletion Refines the Critical Region and Implicates PSMD2 Haploinsufficiency in Growth and Neurodevelopmental Abnormalities

3q27.1 microdeletion, NDD with growth retardation and dysmorphic features (PSMD2 haploinsufficiency)
7
/10
Neurodevelopment
Am J Med Genet A 2026· JunRead
ATP6V0A2
Autosomal recessivePubMed

ATP6V0A2-Related Cutis Laxa: Identification of a Recurrent Exon 16 Deletion With Founder Effect in Southeastern Türkiye and a Novel Frameshift Variant

Autosomal recessive cutis laxa type 2 (ATP6V0A2), Debré syndrome
7
/10
Recurrent variantPhenotypic expansion
Am J Med Genet A 2026· JunRead
MED12
X-linked, féminin restreintPubMed

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12-Related Developmental Disorders

Hardikar syndrome (MED12), orofacial, digestive, and genitourinary malformations
7
/10
Phenotypic expansion
Am J Med Genet A 2026· JunRead
Expanded carrier screening (ECS), 176 AR/XL disorders, preventive genetics
PubMed

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

Expanded carrier screening (ECS), 176 AR/XL disorders, preventive genetics
7
/10
Am J Med Genet A 2026· MayRead
GZF1
Autosomal recessivePubMed

Expanding the Genetic and Clinical Spectrum of GZF1-Related Phenotype: A Specific Ocular and Skeletal Disorder Distinguishable From Larsen Syndrome

GZF1-related disorder, specific ocular and skeletal syndrome (distinct from Larsen syndrome)
7
/10
Phenotypic expansion
Am J Med Genet A 2026· MayRead
WDR59
Autosomal recessivePubMed

WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated Cardiomyopathy

Autosomal recessive syndromic dilated cardiomyopathy (WDR59)
7
/10
CardiologyNew geneNew mechanism
Clin Genet 2026· JunRead
RNU4-2
De novoPubMed

Exploring the Impact of RNU4-2 Defects on Neurodevelopmental Disorders in a Korean Population

RNU4-2-linked neurodevelopmental disorder, severe intellectual disability and epilepsy (non-coding spliceosomal RNA)
7
/10
NeurodevelopmentRecurrent variantNew mechanism
Clin Genet 2026· JunRead
NLGN4X
De novoPubMed

Genotype-Phenotype Correlation Through Breakpoint Characterization of a Genomically Balanced Complex Chromosomal Rearrangement Using Long Read Sequencing

Balanced complex chromosomal rearrangement (8-chromosome CCR) with NDD, disrupted NLGN4X, LAMA4, ALG6 genes
7
/10
Long-read WGSLong-read sequencing
Am J Med Genet A 2026· JunRead
SLC20A1
Autosomal recessivePubMed

Homozygous Loss-of-Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Multiple congenital anomalies (tetralogy of Fallot, renal agenesis, polydactyly), first biallelic SLC20A1 case
7
/10
New gene
Clin Genet 2026· JunRead
SYNGAP1
Autosomal dominantPubMed

Clinical Analysis of SYNGAP1 Variant-Related Neurodevelopmental Disorders in Chinese Children

SYNGAP1-related neurodevelopmental disorder, intellectual disability with drug-resistant epilepsy
7
/10
NeurodevelopmentPhenotypic expansion
Clin Genet 2026· JunRead
BRCA1
Autosomal dominantPubMed

PRS-BC313 integration for tailored breast cancer prevention in female patients and their healthy relatives

Personalized breast cancer prevention in HBOC variant carriers (PRS-BC313 + CanRisk model)
7
/10
J Med Genet 2026· JunRead
FOXG1
De novoPubMed

Non-coding structural variants disrupt FOXG1 transcriptional regulation in early neurodevelopment

FOXG1 syndrome, neurodevelopmental encephalopathy
7
/10
New mechanism
Nat Commun 2026· JunRead

References and sources

  1. TMEM63B — Syndromic surfactant dysfunction disorder (pediatric interstitial lung disease). Am J Hum Genet 2026. PMID 42259295. Score 10/10. https://pubmed.ncbi.nlm.nih.gov/42259295/
  2. FLNB — Pediatric steroid-resistant nephrotic syndrome (SRNS). J Med Genet 2026. PMID 42209213. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42209213/
  3. FBN1 — Thoracic aortic dissection, hereditary aortopathies (FBN1, ACTA2, COL3A1, TGFBR1). Eur J Hum Genet 2026. PMID 42236916. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42236916/
  4. WDTC1 — Neurodevelopmental syndrome with intellectual disability, epilepsy, and variable obesity (WDTC1). Clin Genet 2026. PMID 41793087. Score 8/10. https://onlinelibrary.wiley.com/doi/10.1111/cge.70160?af=R
  5. DUX4 — Facioscapulohumeral muscular dystrophy (FSHD1 and FSHD2). bioRxiv 2026. doi:10.64898/2026.05.26.727947. Score 8/10. https://www.biorxiv.org/content/10.64898/2026.05.26.727947v1
  6. Rare diseases / diagnostic odyssey (blood RNA-seq pipeline). medRxiv 2026. doi:10.64898/2026.05.27.26353804. Score 8/10. https://www.medrxiv.org/content/10.64898/2026.05.27.26353804v2
  7. PUS7 — Intellectual disability syndrome with growth retardation and microcephaly (PUS7). Clin Genet 2026. PMID 42249560. Score 8/10. https://onlinelibrary.wiley.com/doi/10.1111/cge.70192?af=R
  8. YTHDC2 — Non-obstructive azoospermia, male infertility. Hum Reprod 2026. PMID 42249589. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42249589/
  9. Monogenic metabolic diseases in adults (hyperlipidemia, type 2 diabetes, hypothyroidism). J Endocr Soc 2026. PMID 42255514. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42255514/
  10. Alzheimer's disease and related dementias (polygenic genetic architecture). Nat Genet 2026. PMID 42237039. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42237039/
  11. Neurodevelopmental CNVs, cardiometabolic and psychiatric multimorbidity in adulthood. Am J Hum Genet 2026. PMID 41946365. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/41946365/
  12. SCN1A — Sodium channel-related epilepsies (SCN1A/Dravet, SCN2A, SCN3A, SCN8A, SCN1B). Genet Med 2026. PMID 42227234. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42227234/
  13. CEBPA — Familial germline CEBPA acute myeloid leukemia. J Med Genet 2026. PMID 42209215. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42209215/
  14. PSMD2 — 3q27.1 microdeletion, NDD with growth retardation and dysmorphic features (PSMD2 haploinsufficiency). Am J Med Genet A 2026. doi:10.1002/ajmg.a.70097. Score 7/10. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.70097?af=R
  15. ATP6V0A2 — Autosomal recessive cutis laxa type 2 (ATP6V0A2), Debré syndrome. Am J Med Genet A 2026. PMID 41732832. Score 7/10. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.70102?af=R
  16. MED12 — Hardikar syndrome (MED12), orofacial, digestive, and genitourinary malformations. Am J Med Genet A 2026. PMID 41821414. Score 7/10. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.70122?af=R
  17. Expanded carrier screening (ECS), 176 AR/XL disorders, preventive genetics. Am J Med Genet A 2026. PMID 42212615. Score 7/10. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.70210?af=R
  18. GZF1 — GZF1-related disorder, specific ocular and skeletal syndrome (distinct from Larsen syndrome). Am J Med Genet A 2026. PMID 42170786. Score 7/10. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.70207?af=R
  19. WDR59 — Autosomal recessive syndromic dilated cardiomyopathy (WDR59). Clin Genet 2026. PMID 41715954. Score 7/10. https://onlinelibrary.wiley.com/doi/10.1111/cge.70151?af=R
  20. RNU4-2 — RNU4-2-linked neurodevelopmental disorder, severe intellectual disability and epilepsy (non-coding spliceosomal RNA). Clin Genet 2026. PMID 41731653. Score 7/10. https://onlinelibrary.wiley.com/doi/10.1111/cge.70154?af=R
  21. NLGN4X — Balanced complex chromosomal rearrangement (8-chromosome CCR) with NDD, disrupted NLGN4X, LAMA4, ALG6 genes. Am J Med Genet A 2026. PMID 41755742. Score 7/10. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.70105?af=R
  22. SLC20A1 — Multiple congenital anomalies (tetralogy of Fallot, renal agenesis, polydactyly), first biallelic SLC20A1 case. Clin Genet 2026. PMID 41906789. Score 7/10. https://onlinelibrary.wiley.com/doi/10.1111/cge.70167?af=R
  23. SYNGAP1 — SYNGAP1-related neurodevelopmental disorder, intellectual disability with drug-resistant epilepsy. Clin Genet 2026. PMID 41914539. Score 7/10. https://onlinelibrary.wiley.com/doi/10.1111/cge.70168?af=R
  24. BRCA1 — Personalized breast cancer prevention in HBOC variant carriers (PRS-BC313 + CanRisk model). J Med Genet 2026. PMID 42248667. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42248667/
  25. FOXG1 — FOXG1 syndrome, neurodevelopmental encephalopathy. Nat Commun 2026. PMID 42236689. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42236689/
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3 June 2026