Constitutional genetics

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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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Autosomique récessifPubMed

Histidine 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)

Therapeutic implication

Am J Med Genet A 2026· MayRead

Inflammatory bowel disease (IBD — Crohn's disease and ulcerative colitis)

Exome sequencing directly implicates 68 genes in inflammatory bowel disease

Inflammatory bowel disease (IBD — Crohn's disease and ulcerative colitis)

medRxiv 2026· MayRead

Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants.

Neonatal genetic hearing loss (GJB2, SLC26A4, MT-RNR1, GJB3)

Newborn screeningRecurrent variant

J Med Genet 2026· MayRead

Autosomique dominantPubMed

Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly.

Proteasome-associated autoinflammatory syndrome with immunodeficiency (PRAAS-ID) — monoallelic

Functional SNVNew mechanism

Am J Hum Genet 2026· MayRead

Mitochondrial aminoacyl-tRNA synthetase (mtARS) deficiencies

Mitochondrial aminoacyl-tRNA synthetase (ARS)-defects: a review of phenotypes and therapeutic strategies in 899 patients.

Mitochondrial aminoacyl-tRNA synthetase (mtARS) deficiencies

Therapeutic implication

Genet Med 2026· MayRead

WGS / Diagnosis

Genetic findings and healthcare utilization among individuals undergoing population genomic screening for actionable hereditary disorders.

Population genomic screening for actionable hereditary disorders

WGS / DiagnosisTherapeutic implication

Genet Med 2026· MayRead

Autosomique dominantPubMed

Diagnosis complexity of dentinogenesis imperfecta involving DSPP genetic variants

DSPP-related dentinogenesis imperfecta (types II and III) and dentin dysplasia type II

Long-read WGSLong-read sequencing

J Med Genet 2026· MayRead

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Potocki-Lupski syndrome (17p11.2 duplication)

NeurodevelopmentPhenotypic expansion

J Med Genet 2026· MayRead

Newborn screening

The Costs of Genomic Newborn Screening in England: A Micro-Costing Analysis from the Generation Study.

Genomic newborn screening — cost analysis (Generation Study, England)

Newborn screening

Genet Med 2026· MayRead

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith-Magenis Syndrome

Smith-Magenis syndrome (17p11.2 deletion or RAI1 variants)

NeurodevelopmentPhenotypic expansion

Am J Med Genet A 2026· MayRead

Autosomique dominantPubMed

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers-Danlos Syndrome: The First Non-European Cohort

Vascular Ehlers-Danlos syndrome (vEDS)

Therapeutic implication

Am J Med Genet A 2026· MayRead

Autosomique récessifmedRxiv

Rare bi-allelic loss-of-function variants in the LRRK2 kinase cause interstitial lung disease

LRRK2 biallelic loss-of-function Mendelian interstitial lung disease

medRxiv 2026· MayRead

Bardet-Biedl syndrome (BBS)

Autosomique récessifPubMed

Streamlining Diagnosis of Bardet-Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

Bardet-Biedl syndrome (BBS)

Am J Med Genet A 2026· MayRead

Autosomique dominantPubMed

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

PPP1R12A-related genitourinary and/or brain malformation syndrome (autosomal dominant)

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