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Constitutional genetics

Week of 25 August 2026

13 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

►COL1A1 — a +5 splice region variant confirmed by minigene assay, alongside a map of 402 published variants.
►Genome sequencing in severe developmental language disorder: 36% diagnostic yield in a population not tested until now.
►SMN1 — 30,733 individuals screened, 1 carrier in 69, and two SNPs that trip up qPCR.
►CYP21A2 — long-read newborn screening: two biallelic newborns despite normal 17α-OHP.

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Neurodevelopment

Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.

Severe developmental language disorder

NeurodevelopmentPhenotypic expansion

Eur J Hum Genet 2026· AugRead

Hospital-wide implementation of inpatient first-tier rapid genome sequencing.

Suspected genetic disease in hospitalized children

Genet Med 2026· AugRead

Autosomal recessivePubMed

Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.

Spinal muscular atrophy

PrenatalPrenatal application

Clin Chim Acta 2026· AugRead

Autosomal dominantPubMed

A Novel Splice Variant in the COL1A1 Gene Leads to Exon 46 Skipping and Osteogenesis Imperfecta.

Osteogenesis imperfecta

PrenatalFunctional SNVPrenatal application

Hum Mutat 2026· AugRead

Autosomal recessivePubMed

DDIAS shields single-stranded DNA in mitosis and promotes vertebrate brain development.

Severe neurodevelopmental disorder

NeurodevelopmentNew geneNew mechanism

Cell 2026· AugRead

Congenital heart disease associated with 15q11.2 BP1-BP2 copy number variants

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers.

Congenital heart disease associated with 15q11.2 BP1-BP2 copy number variants

Phenotypic expansion

Am J Med Genet A 2026· AugRead

Autosomal dominantPubMed

ClinGen Glaucoma Variant Curation Expert Panel recommendations enhance classification of myocilin variants.

Mendelian open-angle glaucoma

VUS reclassified

medRxiv 2026· AugRead

Enhancing Diagnostic Precision in Non-Immune Hydrops Fetalis: The Incremental Value of Whole Exome Sequencing-A Prospective Cohort Study.

Non-immune hydrops fetalis

PrenatalPrenatal application

Clin Genet 2026· AugRead

Autosomal recessivePubMed

Clinical application of long-read sequencing in newborn genetic screening for congenital adrenal hyperplasia.

Congenital adrenal hyperplasia

Long-read WGSLong-read sequencing

Front Genet 2026· AugRead

Autosomal dominantPubMed

Molecular characterization of FAM222B as a novel disease gene for dominant cardiovascular laterality defects.

Cardiovascular laterality defects

New geneRecurrent variant

Sci Rep 2026· AugRead

Autosomal dominantPubMed

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development.

Malformation of cortical development with intellectual disability (tubulinopathy)

NeurodevelopmentFunctional SNV

Am J Med Genet A 2026· AugRead

Autosomal recessivemedRxiv

Biallelic IRAK4 Variants Associated with Severe Neurological Autoinflammation: An Expansion of the Clinical Phenotype

Severe neurological and systemic autoinflammation with leukoencephalopathy

Metabolism / EpilepsyPhenotypic expansion

medRxiv 2026· AugRead

Enrichment of Repeat Expansions in FGF14 Associated with Amyotrophic Lateral Sclerosis

Amyotrophic lateral sclerosis

Long-read WGSRepeat expansionPhenotypic expansion

medRxiv 2026· AugRead

References and sources

COL1A1 — Osteogenesis imperfecta. Hum Mutat 2026. PMID 42620875. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42620875/
DDIAS — Severe neurodevelopmental disorder. Cell 2026. PMID 42636811. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42636811/
Severe developmental language disorder. Eur J Hum Genet 2026. PMID 42608469. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42608469/
Suspected genetic disease in hospitalized children. Genet Med 2026. PMID 42615209. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42615209/
Congenital heart disease associated with 15q11.2 BP1-BP2 copy number variants. Am J Med Genet A 2026. PMID 42609094. Score 7/10. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.70273?af=R
MYOC — Mendelian open-angle glaucoma. medRxiv 2026. PMID 42619956. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42619956/
FAM222B — Cardiovascular laterality defects. Sci Rep 2026. PMID 42632841. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42632841/
SMN1 — Spinal muscular atrophy. Clin Chim Acta 2026. PMID 42632441. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42632441/
Non-immune hydrops fetalis. Clin Genet 2026. PMID 42637266. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42637266/
TUBB — Malformation of cortical development with intellectual disability (tubulinopathy). Am J Med Genet A 2026. PMID 42631447. Score 6/10. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.70289?af=R
CYP21A2 — Congenital adrenal hyperplasia. Front Genet 2026. PMID 42634743. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42634743/
IRAK4 — Severe neurological and systemic autoinflammation with leukoencephalopathy. medRxiv 2026. doi:10.64898/2026.08.14.26359722. Score 6/10. https://www.medrxiv.org/content/10.64898/2026.08.14.26359722v1
FGF14 — Amyotrophic lateral sclerosis. medRxiv 2026. doi:10.64898/2026.08.16.26351538. Score 5/10. https://www.medrxiv.org/content/10.64898/2026.08.16.26351538v1