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Constitutional genetics

Week of 16 June 2026

22 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

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22 articles of 22
Progeroid syndrome / accelerated aging
PubMed
★ Top pick

A progeria syndrome links DNA hypermethylation to age-related pathology.

Progeroid syndrome / accelerated aging
0
/10
New mechanismTherapeutic implication
Nat Genet 2026· JunRead
DMAP1
Autosomal recessivePubMed
★ Top pick

Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.

DMAP1-related syndromic neurodevelopmental disorder
0
/10
NeurodevelopmentNew geneFunctional SNV
J Clin Invest 2026· JunRead
LDLR
Autosomal dominantPubMed
★ Top pick

A Genome-First Study of Familial Hypercholesterolemia Comparing African and European Ancestry Individuals.

Familial hypercholesterolemia
0
/10
Recurrent variant
Circulation 2026· JunRead
WGS / Diagnosis
PubMed
★ Top pick

MAJIQ-CLIN: A novel tool to help identify Mendelian disease-causing variants from RNA-Seq data.

Mendelian diseases / splicing variants missed by ES/GS
0
/10
WGS / DiagnosisFunctional SNV
Genet Med 2026· JunRead
Rapid WGS
PubMed
★ Top pick

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

Rare genetic diseases in neonatal intensive care
0
/10
Rapid WGS
Genet Med 2026· JunRead
MSH3
Autosomal dominantbioRxiv
★ Top pick

Somatic CRISPR editing of Msh3 mitigates Huntington's disease pathology in mice.

Huntington's disease
0
/10
New mechanismTherapeutic implication
bioRxiv 2026· JunRead
PHGDH
medRxiv
★ Top pick

Human genetic evidence links serine biosynthesis to diabetic peripheral neuropathy.

Diabetic peripheral neuropathy
0
/10
NeurologyNew mechanism
medRxiv 2026· JunRead
WGS / Diagnosis
PubMed
★ Top pick

Decoding common and rare noncoding variant effects across cellular and developmental contexts.

Mendelian diseases / noncoding variants
0
/10
WGS / Diagnosis
Nat Genet 2026· JunRead
Long-read WGS
PubMed
★ Top pick

Germline sequence variation within the ribosomal DNA is associated with human complex traits.

Complex traits / ribosomal DNA variation
0
/10
Long-read WGSNew mechanismLong-read sequencing
Cell Genomics 2026· JunRead
FXN
Autosomal recessivePubMed
★ Top pick

FXN protomutations are the source of pathogenic expanded GAA alleles in Friedreich ataxia and explain its unequal population distribution.

Friedreich ataxia
0
/10
NeurologyNew mechanismRepeat expansion
Hum Mol Genet 2026· JunRead
CEP290
Autosomal recessivePubMed

Clinical and functional characterization of a novel homozygous non-canonical splice mutation (c.1910-15_1910-11delinsTTACA) in CEP290 causing Joubert syndrome.

Joubert syndrome
0
/10
NeurodevelopmentFunctional SNVDeep intronic variant
Hum Genomics 2026· JunRead
KCNMA1
Autosomal dominantPubMed

Identification of a Novel Genetic Variant responsible for Familial Atrial Fibrillation.

Familial atrial fibrillation
0
/10
Phenotypic expansionFunctional SNV
Can J Cardiol 2026· JunRead
WGS / Diagnosis
PubMed

Clinical Utility of Exome Sequencing: Post-Exome Testing Decision Changes in the Management of Children with Suspected Rare Genetic Disease.

Pediatric rare genetic diseases
0
/10
WGS / Diagnosis
Genet Med 2026· JunRead
Pediatric RASopathies
Autosomal dominantPubMed

Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases.

Pediatric RASopathies
0
/10
Phenotypic expansionRecurrent variant
Clin Genet 2026· JunRead
MARS1
Autosomal recessivePubMed

Neurodevelopmental Profile of Children With MARS1-Related Pulmonary Alveolar Proteinosis: A Cohort Study.

MARS1-related pulmonary alveolar proteinosis / neurodevelopmental involvement
0
/10
NeurodevelopmentPhenotypic expansion
Am J Med Genet A 2026· JunRead
MRPS34
Autosomal recessivePubMed

Expanding the clinical and genetic spectrum of MRPS34-related disease: two new cases and systematic review.

Combined oxidative phosphorylation deficiency type 32 (COXPD32) / Leigh spectrum
0
/10
NeurodevelopmentPhenotypic expansionFunctional SNV
JIMD Rep 2026· JulRead
Repeat expansion variants / ACMG guidelines
PubMed

Detection of repeat expansion variants using next generation sequencing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

Repeat expansion variants / ACMG guidelines
0
/10
Repeat expansion
Genet Med 2026· JunRead
VUS / Reporting guidelines (ACMG)
PubMed

Points to consider for the reporting of variants of uncertain significance in germline genetic and genomic testing: A statement of the American College of Medical Genetics and Genomics (ACMG).

VUS / Reporting guidelines (ACMG)
0
/10
VUS reclassified
Genet Med 2026· JunRead
WRN
Autosomal recessivePubMed

Development of an exon 27-skipping antisense oligonucleotide as a targeted therapy for refractory skin ulcers in Werner syndrome.

Werner syndrome
0
/10
Therapeutic implicationFunctional SNV
Mol Ther Nucleic Acids 2026· JunRead
Prenatal
PubMed

Application of next-generation sequencing in nonimmune hydrops fetalis and its impact on pregnancy decisions.

Nonimmune hydrops fetalis (NIHF)
0
/10
PrenatalPrenatal application
BMC Pregnancy Childbirth 2026· JunRead
F8
X-linkedPubMed

Genetic testing and reproductive intervention for 210 Chinese pedigrees affected with Hemophilia.

Hemophilia A and B
0
/10
PrenatalPrenatal applicationRecurrent variant
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2026· JunRead
Long-read WGS
PubMed

Haplotype-resolved X-chromosome inactivation analysis using nanopore sequencing reveals cell-type-specific XCI patterns.

X-chromosome inactivation / X-linked disorders
0
/10
Long-read WGSLong-read sequencingNew mechanism
HGG Adv 2026· JunRead

References and sources

  1. Progeroid syndrome / accelerated aging. Nat Genet 2026. PMID 42286141. Score 10/10. https://pubmed.ncbi.nlm.nih.gov/42286141/
  2. DMAP1 — DMAP1-related syndromic neurodevelopmental disorder. J Clin Invest 2026. PMID 42275155. Score 10/10. https://pubmed.ncbi.nlm.nih.gov/42275155/
  3. LDLR — Familial hypercholesterolemia. Circulation 2026. PMID 42212376. Score 10/10. https://pubmed.ncbi.nlm.nih.gov/42212376/
  4. Mendelian diseases / splicing variants missed by ES/GS. Genet Med 2026. PMID 42267532. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42267532/
  5. Rare genetic diseases in neonatal intensive care. Genet Med 2026. PMID 42267533. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42267533/
  6. MSH3 — Huntington's disease. bioRxiv 2026. doi:10.64898/2026.06.08.730940. Score 9/10. https://www.biorxiv.org/content/10.64898/2026.06.08.730940v1
  7. PHGDH — Diabetic peripheral neuropathy. medRxiv 2026. doi:10.64898/2026.06.09.26355286. Score 9/10. https://www.medrxiv.org/content/10.64898/2026.06.09.26355286v1
  8. Mendelian diseases / noncoding variants. Nat Genet 2026. PMID 42298188. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42298188/
  9. Complex traits / ribosomal DNA variation. Cell Genomics 2026. PMID 41966685. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/41966685/
  10. FXN — Friedreich ataxia. Hum Mol Genet 2026. PMID 42262226. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42262226/
  11. CEP290 — Joubert syndrome. Hum Genomics 2026. PMID 42271513. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42271513/
  12. KCNMA1 — Familial atrial fibrillation. Can J Cardiol 2026. PMID 42263934. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42263934/
  13. Pediatric rare genetic diseases. Genet Med 2026. PMID 42273873. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42273873/
  14. Pediatric RASopathies. Clin Genet 2026. PMID 42261585. Score 7/10. https://onlinelibrary.wiley.com/doi/10.1111/cge.70193
  15. MARS1 — MARS1-related pulmonary alveolar proteinosis / neurodevelopmental involvement. Am J Med Genet A 2026. PMID 42286830. Score 7/10. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.70216
  16. MRPS34 — Combined oxidative phosphorylation deficiency type 32 (COXPD32) / Leigh spectrum. JIMD Rep 2026. PMID 42266416. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42266416/
  17. Repeat expansion variants / ACMG guidelines. Genet Med 2026. PMID 42287278. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42287278/
  18. VUS / Reporting guidelines (ACMG). Genet Med 2026. PMID 42287277. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42287277/
  19. WRN — Werner syndrome. Mol Ther Nucleic Acids 2026. PMID 42095135. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42095135/
  20. Nonimmune hydrops fetalis (NIHF). BMC Pregnancy Childbirth 2026. PMID 42265713. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42265713/
  21. F8 — Hemophilia A and B. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2026. PMID 42091190. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42091190/
  22. X-chromosome inactivation / X-linked disorders. HGG Adv 2026. PMID 42265917. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42265917/
Previous week
10 June 2026