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Constitutional genetics

Week of 13 May 2026

15 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

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15 articles of 15
Long-read WGS
PubMed
★ Top pick

Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples.

Difficult-to-detect pathogenic variants (repeat expansions, deep intronic, structural variants, mosaicism)
9
/10
Long-read WGSLong-read sequencingClinical pipeline
Am J Hum Genet 2026· MayRead
WDHD1
Autosomique récessifPubMed
★ Top pick

Bi-allelic variants in WDHD1 cause microcephalic primordial dwarfism.

Microcephalic primordial dwarfism (MPD) with acute liver failure, hematological abnormalities, and Leigh syndrome-like neurological involvement
9
/10
New geneFunctional SNV
Am J Hum Genet 2026· MayRead
ATG12
Autosomique récessifPubMed

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder.

Neurodevelopmental disorder with intellectual disability, congenital ataxia, hypotonia, seizures, and cerebellar vermis hypoplasia
8
/10
NeurodevelopmentNew geneFunctional SNV
Am J Hum Genet 2026· MayRead
Newborn screening
PubMed

Nationwide Newborn Screening for Mucopolysaccharidoses in Taiwan: Impact, Early Diagnosis, and Clinical Advances over the Past Decade.

Mucopolysaccharidoses (MPS I, II, IVA, VI) — nationwide newborn screening
8
/10
Newborn screeningTherapeutic implicationRecurrent variant
Genet Med 2026· MayRead
NDUFA5
Autosomique récessifPubMed

Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency.

Mitochondriopathy with complex I deficiency (severe congenital heart defects, hematological abnormalities, Leigh syndrome-like neurological involvement)
7
/10
New geneFunctional SNV
Am J Hum Genet 2026· MayRead
Rapid WGS
PubMed

Implementation of First-Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

Genetic diagnoses in pediatric and cardiac intensive care units (rare diseases in acute care settings)
7
/10
Rapid WGSClinical pipeline
Am J Med Genet A 2026· MayRead
Rapid WES
PubMed

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

Pediatric cardiomyopathy with acute heart failure
7
/10
Rapid WESClinical pipelineTherapeutic implication
Am J Med Genet A 2026· MayRead
FGF12
Autosomique dominant / de novoPubMed

FGF12-Related Early-Onset Epileptic Encephalopathies: Therapeutic Response to Sodium Channel Blockers

FGF12 (FHF1)-related early-onset epileptic encephalopathies — treatment with sodium channel blockers
7
/10
Therapeutic implicationNew mechanism
Am J Med Genet A 2026· AprRead
Metabolism / Epilepsy
PubMed

Implications of the FDA's new plausible mechanism framework for the development of a personalized in vivo prime editing platform.

Urea cycle disorders (7 diseases: OTC, CPS1, ASS1, ASL, ARG1, NAGS, citrin deficiency)
6
/10
Metabolism / EpilepsyTherapeutic implicationNew mechanism
Am J Hum Genet 2026· MayRead
COLEC10
Autosomique récessifPubMed

Expansion of the 3MC Syndrome Spectrum: Novel COLEC10 Variants and a MASP1 Exon-Level Deletion

3MC syndrome (Malpuech-Michels-Mingarelli-Carnevale syndrome) — craniofacial malformations, limb anomalies, intellectual disability
6
/10
Phenotypic expansionRecurrent variant
Am J Med Genet A 2026· MayRead
XRCC2
Autosomique récessifPubMed

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

Atypical Fanconi anemia without major hematological abnormalities in childhood
6
/10
Recurrent variantVUS reclassified
Am J Med Genet A 2026· MayRead
CTLA4
Autosomique dominantPubMed

Clinical and Genetic Characteristics of Patients With Novel and Uncertain Significance Variants in CTLA4: A Mexican Cohort

CTLA4-related immune dysregulation (CTLA4 haploinsufficiency — CHAI) — autoimmunity, lymphoproliferation, cytopenias
6
/10
VUS reclassifiedTherapeutic implication
Clin Genet 2026· MayRead
NUP210L
Autosomique récessifPubMed

Novel NUP210L Variants Cause Fertilization Failure and Male Infertility in Humans

Fertilization failure and male infertility — NUP210L deficiency (nuclear pore complex component)
6
/10
New gene
Clin Genet 2026· AprRead
FOXA2
Autosomique dominantPubMed

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

Multiple congenital anomalies with pituitary gland malformation — expanded FOXA2 spectrum
5
/10
Phenotypic expansion
Am J Med Genet A 2026· MayRead
ITPR1
Autosomique dominantPubMed

A Novel Gain-of-Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

Movement disorder with tremor and dystonia — novel ITPR1 gain-of-function mechanism
5
/10
New mechanismPhenotypic expansion
Am J Med Genet A 2026· MayRead

References and sources

  1. Difficult-to-detect pathogenic variants (repeat expansions, deep intronic, structural variants, mosaicism). Am J Hum Genet 2026. PMID 42049032. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42049032/
  2. NDUFA5 — Mitochondriopathy with complex I deficiency (severe congenital heart defects, hematological abnormalities, Leigh syndrome-like neurological involvement). Am J Hum Genet 2026. PMID 41916321. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/41916321/
  3. ATG12 — Neurodevelopmental disorder with intellectual disability, congenital ataxia, hypotonia, seizures, and cerebellar vermis hypoplasia. Am J Hum Genet 2026. PMID 41895291. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/41895291/
  4. WDHD1 — Microcephalic primordial dwarfism (MPD) with acute liver failure, hematological abnormalities, and Leigh syndrome-like neurological involvement. Am J Hum Genet 2026. PMID 41962535. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/41962535/
  5. Urea cycle disorders (7 diseases: OTC, CPS1, ASS1, ASL, ARG1, NAGS, citrin deficiency). Am J Hum Genet 2026. PMID 41923647. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/41923647/
  6. Mucopolysaccharidoses (MPS I, II, IVA, VI) — nationwide newborn screening. Genet Med 2026. PMID 42104851. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42104851/
  7. FOXA2 — Multiple congenital anomalies with pituitary gland malformation — expanded FOXA2 spectrum. Am J Med Genet A 2026. PMID 41693634. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/41693634/
  8. COLEC10 — 3MC syndrome (Malpuech-Michels-Mingarelli-Carnevale syndrome) — craniofacial malformations, limb anomalies, intellectual disability. Am J Med Genet A 2026. PMID 41703727. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/41703727/
  9. Genetic diagnoses in pediatric and cardiac intensive care units (rare diseases in acute care settings). Am J Med Genet A 2026. PMID 41693637. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/41693637/
  10. Pediatric cardiomyopathy with acute heart failure. Am J Med Genet A 2026. PMID 41572441. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/41572441/
  11. ITPR1 — Movement disorder with tremor and dystonia — novel ITPR1 gain-of-function mechanism. Am J Med Genet A 2026. PMID 41649386. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/41649386/
  12. XRCC2 — Atypical Fanconi anemia without major hematological abnormalities in childhood. Am J Med Genet A 2026. PMID 42071175. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42071175/
  13. FGF12 — FGF12 (FHF1)-related early-onset epileptic encephalopathies — treatment with sodium channel blockers. Am J Med Genet A 2026. PMID 42057324. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42057324/
  14. CTLA4 — CTLA4-related immune dysregulation (CTLA4 haploinsufficiency — CHAI) — autoimmunity, lymphoproliferation, cytopenias. Clin Genet 2026. PMID 42086466. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42086466/
  15. NUP210L — Fertilization failure and male infertility — NUP210L deficiency (nuclear pore complex component). Clin Genet 2026. PMID 42055687. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42055687/
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