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Constitutional genetics
Week of 1 September 2026
12 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►G6PC — AAV8 gene therapy in glycogen storage disease Ia: 41% reduction in cornstarch intake versus 10% on placebo, in a randomized phase 3 trial.
- ►Citywide rapid genome sequencing: 53% diagnostic yield in 3.4 days, 80% in consanguineous families.
- ►OTOG — p.Arg1234Ter founder variant in Irish Travellers, seven families: to be requested whenever newborn hearing screening fails.
- ►LRP1 — haploinsufficiency becomes a cause of syndromic neurodevelopmental disorder with congenital heart defects, across fifteen independent individuals.
- ►CHD1, CHD3, CHD4, CHD8 — de novo chromatin remodelling variants contribute to sporadic Chiari 1 malformation, across 1,585 trios.
- ►22q11.21 — deletion raises early-onset Alzheimer risk and duplication lowers it, across 22,319 exomes plus replication.
- ►KMO — a fourth congenital NAD deficiency gene, with vitamin B3 dependence demonstrated in mice.
12 articles of 12
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G6PC
Autosomal recessivePubMed★ Top pick
⭐ À la une
Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.
Glycogen storage disease type Ia
10
Therapeutic implication
J Inherit Metab Dis 2026· SepRead
Rapid WGS
PubMed★ Top pick
Citywide implementation of a rapid whole-genome sequencing program for critically ill pediatric patients.
Rare diseases in neonatal and pediatric intensive care
9
Rapid WGSClinical pipelineDiagnostic yield
Nat Med 2026· AugRead
OTOG
Autosomal recessivePubMedFounder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.
Autosomal recessive non-syndromic sensorineural hearing loss
8
Newborn screeningRecurrent variant
J Med Genet 2026· AugRead
LRP1
Autosomal dominantPubMedHeterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects.
Syndromic neurodevelopmental disorder with congenital heart defects
8
NeurodevelopmentNew gene
Am J Med Genet A 2026· AugRead
CHD3
Autosomal dominantPubMedDe novo chromatin remodelling variants in sporadic Chiari 1 malformation.
Sporadic Chiari 1 malformation
8
NeurodevelopmentPhenotypic expansionNew mechanism
Brain 2026· AugRead
SCARF2
PubMedExome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.
Early-onset and late-onset Alzheimer disease
8
Functional SNV
Am J Hum Genet 2026· AugRead
MORC2
PubMedExploring the clinical and mutational spectrum of MORC2-associated disorders.
Charcot-Marie-Tooth disease type 2Z and DIGFAN phenotype
7
NeurologyPhenotypic expansionFunctional SNV
J Med Genet 2026· AugRead
Polygenic risk score
PubMedA multiancestry polygenic risk score for Alzheimer's disease is associated with cognitive decline and neuropathological hallmarks in diverse populations.
Alzheimer's disease
7
Polygenic risk score
Nat Genet 2026· AugRead
KMO
Autosomal recessivemedRxivBiallelic Variants in KMO Cause a Novel Form of Congenital NAD Deficiency
Congenital NAD deficiency disorder
6
New geneFunctional SNV
medRxiv 2026· AugRead
PAX6
PubMedMolecular and Clinical Analyses of 111 Patients with Bilateral Anterior-Segment Dysgenesis/Aniridia and Microphthalmia/Anophthalmia.
Anterior-segment dysgenesis, aniridia and microphthalmia or anophthalmia
6
Recurrent variant
Ophthalmol Sci 2026· JulRead
WGS / Diagnosis
PubMedUncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border.
Pediatric hearing loss
6
WGS / DiagnosisClinical pipelineDiagnostic yield
Clin Genet 2026· AugRead
SEMA6A
PubMedSystematic genotype-phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22-q23 deletions.
5q22.3-q23.3 interstitial deletion with neuronal migration defect
5
Neurodevelopment
J Hum Genet 2026· AugRead
References and sources
- G6PC — Glycogen storage disease type Ia. J Inherit Metab Dis 2026. PMID 42674977. Score 10/10. https://pubmed.ncbi.nlm.nih.gov/42674977/
- Rare diseases in neonatal and pediatric intensive care. Nat Med 2026. PMID 42637935. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42637935/
- OTOG — Autosomal recessive non-syndromic sensorineural hearing loss. J Med Genet 2026. PMID 42642215. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42642215/
- LRP1 — Syndromic neurodevelopmental disorder with congenital heart defects. Am J Med Genet A 2026. PMID 42649465. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42649465/
- CHD3 — Sporadic Chiari 1 malformation. Brain 2026. PMID 42640505. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42640505/
- SCARF2 — Early-onset and late-onset Alzheimer disease. Am J Hum Genet 2026. PMID 42648288. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42648288/
- MORC2 — Charcot-Marie-Tooth disease type 2Z and DIGFAN phenotype. J Med Genet 2026. PMID 42665440. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42665440/
- Alzheimer's disease. Nat Genet 2026. PMID 42661068. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42661068/
- KMO — Congenital NAD deficiency disorder. medRxiv 2026. doi:10.64898/2026.08.24.26360911. Score 6/10. https://www.medrxiv.org/content/10.64898/2026.08.24.26360911v1
- PAX6 — Anterior-segment dysgenesis, aniridia and microphthalmia or anophthalmia. Ophthalmol Sci 2026. PMID 42667103. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42667103/
- Pediatric hearing loss. Clin Genet 2026. PMID 42644240. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42644240/
- SEMA6A — 5q22.3-q23.3 interstitial deletion with neuronal migration defect. J Hum Genet 2026. PMID 42660970. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42660970/
