Full archive
Constitutional genetics
Week of 28 July 2026
16 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►BCLAF3 — hypermethylated CCG expansion at Xp22, a new X-linked neurodevelopmental aetiology in males.
- ►snRNA — WES extended to 50 snRNA genes recovers 1.2% of diagnoses missed by standard exome.
- ►SCN2A — allele-selective antisense oligonucleotides in two patients, 16% eligibility by haplotype phasing.
- ►EXOSC3 — severe paediatric thrombotic microangiopathy resistant to C5 inhibition.
- ►SECISBP2 — biallelic loss of function causes lethal perinatal cardiomyopathy.
Category:
Filters··Min. score
16 articles of 16
Sort
BCLAF3
X-linkedPubMed★ Top pick
Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders.
X-linked neurodevelopmental disorder
0
Long-read WGSNew geneRepeat expansion
Genome Med 2026· JulRead
RNU4-2
PubMed★ Top pick
Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening.
Unsolved Mendelian disorders, neurodevelopmental disorders
0
NeurodevelopmentRecurrent variant
iScience 2026· JulRead
EXOSC3
Autosomal recessivePubMed★ Top pick
Biallelic pathogenic variants in EXOSC3 mediate renal thrombotic microangiopathy of the kidney.
Renal thrombotic microangiopathy associated with pontocerebellar hypoplasia type 1b
0
NeurodevelopmentPhenotypic expansionTherapeutic implication
Kidney Int 2026· JulRead
Neurodevelopment
PubMed★ Top pick
Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures.
Down syndrome (trisomy 21)
0
NeurodevelopmentPrenatal application
Am J Hum Genet 2026· JulRead
SCN2A
Autosomal dominantPubMed⭐ À la une
Individualized antisense oligonucleotides for SCN2A-related developmental epileptic encephalopathy.
SCN2A-related developmental and epileptic encephalopathy
0
Rapid WGSTherapeutic implication
Nat Med 2026· JulRead
PIEZO2
Autosomal dominant ou autosomal recessivePubMedBeyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.
Distal arthrogryposis and PIEZO2-related disorders
0
PrenatalPhenotypic expansion
Brain 2026· JulRead
PCDHGB1
PubMedDetecting Rare Variants in PCDHGB1 in Dystonia.
Dystonia predominantly affecting cervical muscles
0
Recurrent variantFunctional SNV
Mov Disord 2026· JulRead
BRSK2
Autosomal dominantPubMedFurther characterization of the BRSK2-associated neurodevelopmental disorder.
BRSK2-associated neurodevelopmental disorder
0
NeurodevelopmentPhenotypic expansionFunctional SNV
Eur J Hum Genet 2026· JulRead
WGS / Diagnosis
Autosomal dominantPubMedIntegrated D4Z4 structural, epigenetic and exome-based evaluation of facioscapulohumeral muscular dystrophy in a tertiary referral cohort from Türkiye.
Facioscapulohumeral muscular dystrophy
0
WGS / Diagnosis
J Med Genet 2026· JulRead
LRGUK
Autosomal recessivePubMedBiallelic Truncating Variant in LRGUK Is Associated With Severe Multiple Morphological Abnormalities of the Sperm Flagella and Sperm Nuclear Defects in Humans.
Male infertility, multiple morphological abnormalities of the sperm flagella
0
New geneFunctional SNV
Clin Genet 2026· JulRead
SECISBP2
Autosomal recessivemedRxivSECISBP2 Deficiency Causes a Lethal Perinatal Cardiomyopathy
Lethal perinatal cardiomyopathy due to SECISBP2 deficiency
0
CardiologyPhenotypic expansion
medRxiv 2026· JulRead
NFIC
Autosomal dominantPubMedDelineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.
Syndromic intellectual disability with macrocephaly
0
NeurodevelopmentNew gene
Clin Genet 2026· JulRead
SOX3
X-linked récessifPubMedPosition effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.
X-linked complex hereditary spastic paraplegia
0
New mechanism
Am J Hum Genet 2026· JulRead
ASXL3
Autosomal dominantmedRxivASXL3 truncating patient variants mediate transcriptional gain-of-function and are antisense oligonucleotide-responsive
Bainbridge-Ropers syndrome
0
NeurodevelopmentNew mechanismTherapeutic implication
medRxiv 2026· JulRead
CEP290
Autosomal recessivePubMedBreakpoint-level characterization of a novel CEP290 tandem duplication in trans with a pathogenic splice-site variant in a patient with Leber congenital amaurosis.
Leber congenital amaurosis, early-onset retinal degeneration
0
WGS / Diagnosis
BMC Med Genomics 2026· JulRead
HNRNPH2
X-linkedPubMedMusculoskeletal Phenotypes of 19 Patients With X-Linked HNRNPH2-Related Neurodevelopmental Disorder: A Prospective Case Series.
X-linked HNRNPH2-related neurodevelopmental disorder
0
NeurodevelopmentPhenotypic expansion
Am J Med Genet A 2026· JulRead
References and sources
- BCLAF3 — X-linked neurodevelopmental disorder. Genome Med 2026. PMID 42482100. Score 10/10. https://pubmed.ncbi.nlm.nih.gov/42482100/
- RNU4-2 — Unsolved Mendelian disorders, neurodevelopmental disorders. iScience 2026. PMID 42502410. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42502410/
- EXOSC3 — Renal thrombotic microangiopathy associated with pontocerebellar hypoplasia type 1b. Kidney Int 2026. PMID 42486191. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42486191/
- SCN2A — SCN2A-related developmental and epileptic encephalopathy. Nat Med 2026. PMID 42481851. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42481851/
- Down syndrome (trisomy 21). Am J Hum Genet 2026. PMID 42492524. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42492524/
- PIEZO2 — Distal arthrogryposis and PIEZO2-related disorders. Brain 2026. PMID 42496149. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42496149/
- PCDHGB1 — Dystonia predominantly affecting cervical muscles. Mov Disord 2026. PMID 42482420. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42482420/
- BRSK2 — BRSK2-associated neurodevelopmental disorder. Eur J Hum Genet 2026. PMID 42509346. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42509346/
- Facioscapulohumeral muscular dystrophy. J Med Genet 2026. PMID 42498520. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42498520/
- LRGUK — Male infertility, multiple morphological abnormalities of the sperm flagella. Clin Genet 2026. PMID 42493466. Score 8/10. https://onlinelibrary.wiley.com/doi/10.1111/cge.70220?af=R
- NFIC — Syndromic intellectual disability with macrocephaly. Clin Genet 2026. PMID 42498698. Score 7/10. https://onlinelibrary.wiley.com/doi/10.1111/cge.70215?af=R
- SOX3 — X-linked complex hereditary spastic paraplegia. Am J Hum Genet 2026. PMID 42497869. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42497869/
- ASXL3 — Bainbridge-Ropers syndrome. medRxiv 2026. doi:10.64898/2026.07.20.26358515. Score 7/10. https://www.medrxiv.org/content/10.64898/2026.07.20.26358515v1
- SECISBP2 — Lethal perinatal cardiomyopathy due to SECISBP2 deficiency. medRxiv 2026. doi:10.64898/2026.07.22.26358709. Score 8/10. https://www.medrxiv.org/content/10.64898/2026.07.22.26358709v1
- HNRNPH2 — X-linked HNRNPH2-related neurodevelopmental disorder. Am J Med Genet A 2026. PMID 42482495. Score 5/10. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.70246?af=R
- CEP290 — Leber congenital amaurosis, early-onset retinal degeneration. BMC Med Genomics 2026. PMID 42482214. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42482214/
