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Constitutional genetics
Week of 27 May 2026
14 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►HARS1 — oral histidine supplementation: hearing and vision stabilized over 4+ years in 14 children.
- ►IBD exome — 86,213 IBD cases: 68 genes directly implicated by coding variants, therapeutic targets nominated.
- ►GJB2/SLC26A4 — 11,509 neonates: audiological screening misses 15% of biallelic carriers.
- ►LRRK2 biallelic — biallelic LOF: new Mendelian form of interstitial lung disease.
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HARS1
Autosomal recessivePubMedHistidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1-Related Autosomal Recessive Disorder Associated With Usher-Like Symptoms
HARS1-related autosomal recessive disorder (Usher-like syndrome type 3B)
0
Therapeutic implication
Am J Med Genet A 2026· MayRead
Inflammatory bowel disease (IBD — Crohn's disease and ulcerative colitis)
medRxiv⭐ À la une
Exome sequencing directly implicates 68 genes in inflammatory bowel disease
Inflammatory bowel disease (IBD — Crohn's disease and ulcerative colitis)
0
medRxiv 2026· MayRead
GJB2
PubMedComprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants.
Neonatal genetic hearing loss (GJB2, SLC26A4, MT-RNR1, GJB3)
0
Newborn screeningRecurrent variant
J Med Genet 2026· MayRead
PSMB8
Autosomal dominantPubMedMonoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly.
Proteasome-associated autoinflammatory syndrome with immunodeficiency (PRAAS-ID) — monoallelic
0
Functional SNVNew mechanism
Am J Hum Genet 2026· MayRead
Mitochondrial aminoacyl-tRNA synthetase (mtARS) deficiencies
PubMedMitochondrial aminoacyl-tRNA synthetase (ARS)-defects: a review of phenotypes and therapeutic strategies in 899 patients.
Mitochondrial aminoacyl-tRNA synthetase (mtARS) deficiencies
0
Therapeutic implication
Genet Med 2026· MayRead
WGS / Diagnosis
PubMedGenetic findings and healthcare utilization among individuals undergoing population genomic screening for actionable hereditary disorders.
Population genomic screening for actionable hereditary disorders
0
WGS / DiagnosisTherapeutic implication
Genet Med 2026· MayRead
DSPP
Autosomal dominantPubMedDiagnosis complexity of dentinogenesis imperfecta involving DSPP genetic variants
DSPP-related dentinogenesis imperfecta (types II and III) and dentin dysplasia type II
0
Long-read WGSLong-read sequencing
J Med Genet 2026· MayRead
RAI1
De novoPubMedPhenotypic description of a large French series of individuals with Potocki-Lupski syndrome.
Potocki-Lupski syndrome (17p11.2 duplication)
0
NeurodevelopmentPhenotypic expansion
J Med Genet 2026· MayRead
Newborn screening
PubMedThe Costs of Genomic Newborn Screening in England: A Micro-Costing Analysis from the Generation Study.
Genomic newborn screening — cost analysis (Generation Study, England)
0
Newborn screening
Genet Med 2026· MayRead
RAI1
De novoPubMedDistinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith-Magenis Syndrome
Smith-Magenis syndrome (17p11.2 deletion or RAI1 variants)
0
NeurodevelopmentPhenotypic expansion
Am J Med Genet A 2026· MayRead
COL3A1
Autosomal dominantPubMedClinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers-Danlos Syndrome: The First Non-European Cohort
Vascular Ehlers-Danlos syndrome (vEDS)
0
Therapeutic implication
Am J Med Genet A 2026· MayRead
LRRK2
Autosomal recessivemedRxivRare bi-allelic loss-of-function variants in the LRRK2 kinase cause interstitial lung disease
LRRK2 biallelic loss-of-function Mendelian interstitial lung disease
0
New mechanism
medRxiv 2026· MayRead
Bardet-Biedl syndrome (BBS)
Autosomal recessivePubMedStreamlining Diagnosis of Bardet-Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
Bardet-Biedl syndrome (BBS)
0
Am J Med Genet A 2026· MayRead
PPP1R12A
Autosomal dominantPubMedExpanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
PPP1R12A-related genitourinary and/or brain malformation syndrome (autosomal dominant)
0
NeurodevelopmentDeep intronic variantPhenotypic expansion
Am J Med Genet A 2026· MayRead
References and sources
- HARS1 — HARS1-related autosomal recessive disorder (Usher-like syndrome type 3B). Am J Med Genet A 2026. PMID 42157369. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42157369/
- GJB2 — Neonatal genetic hearing loss (GJB2, SLC26A4, MT-RNR1, GJB3). J Med Genet 2026. PMID 41876127. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/41876127/
- PSMB8 — Proteasome-associated autoinflammatory syndrome with immunodeficiency (PRAAS-ID) — monoallelic. Am J Hum Genet 2026. PMID 42167218. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42167218/
- Mitochondrial aminoacyl-tRNA synthetase (mtARS) deficiencies. Genet Med 2026. PMID 42165228. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42165228/
- Population genomic screening for actionable hereditary disorders. Genet Med 2026. PMID 42153369. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42153369/
- DSPP — DSPP-related dentinogenesis imperfecta (types II and III) and dentin dysplasia type II. J Med Genet 2026. PMID 41819808. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/41819808/
- RAI1 — Potocki-Lupski syndrome (17p11.2 duplication). J Med Genet 2026. PMID 41735031. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/41735031/
- Genomic newborn screening — cost analysis (Generation Study, England). Genet Med 2026. PMID 42153368. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42153368/
- RAI1 — Smith-Magenis syndrome (17p11.2 deletion or RAI1 variants). Am J Med Genet A 2026. PMID 42178606. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42178606/
- COL3A1 — Vascular Ehlers-Danlos syndrome (vEDS). Am J Med Genet A 2026. PMID 42124361. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42124361/
- Bardet-Biedl syndrome (BBS). Am J Med Genet A 2026. PMID 42175648. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42175648/
- PPP1R12A — PPP1R12A-related genitourinary and/or brain malformation syndrome (autosomal dominant). Am J Med Genet A 2026. PMID 42178607. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42178607/
- Inflammatory bowel disease (IBD — Crohn's disease and ulcerative colitis). medRxiv 2026. doi:10.64898/2026.05.08.26352648. Score 8/10. https://www.medrxiv.org/content/10.64898/2026.05.08.26352648v2
- LRRK2 — LRRK2 biallelic loss-of-function Mendelian interstitial lung disease. medRxiv 2026. doi:10.64898/2026.05.15.26352763. Score 6/10. https://www.medrxiv.org/content/10.64898/2026.05.15.26352763v1
