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Constitutional genetics

Week of 13 October 2026

19 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

19 articles of 19
IDUA
Autosomal recessivePubMed

Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I.

IDUA-related retinitis pigmentosa without syndromic mucopolysaccharidosis type I
8
Long-read WGSPhenotypic expansionFunctional SNV
Am J Hum Genet 2026· OctRead
LTBP2
PubMed

Individuals heterozygous for LTBP2 loss-of-function variants have an increased risk of adult-onset primary open-angle glaucoma.

Adult-onset primary open-angle glaucoma in LTBP2 loss-of-function heterozygotes
8
Phenotypic expansion
Genet Med 2026· OctRead
BRIP1
PubMed

Loss of the human BRIP1 C terminus does not cause Fanconi anemia.

Fanconi anaemia: homozygous C-terminal truncating BRIP1 variants
8
Functional SNVNew mechanism
Am J Hum Genet 2026· OctRead
MECP2
X-linkedPubMed

Systematic Review of Females With Intellectual Disability and MECP2 Duplication.

MECP2 duplication syndrome in females with intellectual disability
8
Neurodevelopment
Am J Med Genet A 2026· OctRead
FLCN
Autosomal dominantPubMed

Birt-Hogg-Dubé syndrome, prevalence of identified cases according to clinical indication in a cohort of 1,084 patients with genetic analysis.

Birt-Hogg-Dubé syndrome: test yield by clinical indication
7
WGS / Diagnosis
Genet Med 2026· OctRead
Cardiology
PubMed

Gene-specific reclassification patterns of variants in hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy: gene-specific variant reclassification
7
CardiologyVUS reclassified
Eur J Hum Genet 2026· OctRead
WGS / Diagnosis
PubMed

Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012-2022).

Developmental disorders: change in diagnostic practice in France between 2012 and 2022
7
WGS / Diagnosis
Eur J Hum Genet 2026· OctRead
Neurodevelopment
PubMed

Clinical and molecular spectrum of congenital disorders of glycosylation in 80 Egyptian patients.

Congenital disorders of glycosylation: clinical and molecular spectrum in an Egyptian cohort
7
NeurodevelopmentRecurrent variant
Hum Genet 2026· OctRead
Mitochondrial aminoacyl-tRNA synthetase (ARS2) deficiencies
PubMed

Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl-tRNA Synthetase Deficiencies.

Mitochondrial aminoacyl-tRNA synthetase (ARS2) deficiencies
7
Therapeutic implication
J Inherit Metab Dis 2026· OctRead
RP1
Autosomal dominant ou récessifPubMed

Allelic Architecture and Clinical Spectrum of RP1-Associated Retinal Dystrophies in a Multicenter Korean Cohort.

RP1-associated retinal dystrophies in a multicentre Korean cohort
7
Long-read WGSRecurrent variantPhenotypic expansion
Invest Ophthalmol Vis Sci 2026· OctRead
Preimplantation genetic testing for aneuploidy (PGT-A): variability between laboratories
PubMed

Preimplantation genetic testing laboratory classification strategies are associated with diagnostic yield and downstream clinical performance.

Preimplantation genetic testing for aneuploidy (PGT-A): variability between laboratories
7
Fertil Steril 2026· OctRead
DGUOK
Autosomal recessivePubMed

Pleuroparenchymal fibroelastosis in a monogenic mitochondrial DNA depletion syndrome.

Pleuroparenchymal fibroelastosis in DGUOK-related mitochondrial DNA depletion syndrome
6
Phenotypic expansionFunctional SNV
Eur Respir J 2026· OctRead
Neurodevelopment
PubMed

Diagnostic yield of genome sequencing for children with intellectual disability and developmental delay.

Intellectual disability and developmental delay in children: genome sequencing yield
6
Neurodevelopment
Front Neurol 2026· SepRead
TBX4
PubMed

Variant Class-Specific Phenotypes and Outcomes in Pediatric TBX4-Associated Pulmonary Hypertension.

Paediatric TBX4-associated pulmonary hypertension: CNVs versus single nucleotide variants
6
Neurodevelopment
Pediatr Pulmonol 2026· OctRead
Prenatal
PubMed

From Isolated to Complex: Diagnostic Yield of Chromosomal Microarray and Exome Sequencing in Fetal Growth Restriction.

Fetal growth restriction: yield of chromosomal microarray and exome sequencing
6
PrenatalPrenatal application
Prenat Diagn 2026· OctRead
Prenatal
PubMed

Genetic Investigation of Pregnancies With an Isolated Fetal Pelvic Kidney.

Isolated fetal pelvic kidney: prenatal genetic work-up
6
PrenatalPrenatal application
Prenat Diagn 2026· OctRead
CYB5A
Autosomal recessivePubMed

Biallelic CYB5A disruptions in 46, XY DSD: Novel missense and deep intronic variants.

46,XY disorder of sex development due to CYB5A deficiency
6
WGS / DiagnosisDeep intronic variantFunctional SNV
J Clin Endocrinol Metab 2026· OctRead
CHD8
medRxiv

Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology

Rare diseases: inherited variants with incomplete penetrance
6
WGS / Diagnosis
medRxiv 2026· OctRead
CEP135
Autosomal recessivePubMed

Variants in CEP135 Cause Congenital Microcephaly and Primary Ciliary Dyskinesia.

CEP135-related congenital microcephaly and primary ciliary dyskinesia
5
Phenotypic expansionFunctional SNV
Pediatr Pulmonol 2026· OctRead

References and sources

  1. IDUA — IDUA-related retinitis pigmentosa without syndromic mucopolysaccharidosis type I. Am J Hum Genet 2026. PMID 42838055. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42838055/
  2. LTBP2 — Adult-onset primary open-angle glaucoma in LTBP2 loss-of-function heterozygotes. Genet Med 2026. PMID 42847173. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42847173/
  3. BRIP1 — Fanconi anaemia: homozygous C-terminal truncating BRIP1 variants. Am J Hum Genet 2026. PMID 42863473. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42863473/
  4. MECP2 — MECP2 duplication syndrome in females with intellectual disability. Am J Med Genet A 2026. PMID 42847249. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42847249/
  5. FLCN — Birt-Hogg-Dubé syndrome: test yield by clinical indication. Genet Med 2026. PMID 42857909. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42857909/
  6. Hypertrophic cardiomyopathy: gene-specific variant reclassification. Eur J Hum Genet 2026. PMID 42839025. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42839025/
  7. Developmental disorders: change in diagnostic practice in France between 2012 and 2022. Eur J Hum Genet 2026. PMID 42839024. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42839024/
  8. Congenital disorders of glycosylation: clinical and molecular spectrum in an Egyptian cohort. Hum Genet 2026. PMID 42853272. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42853272/
  9. Mitochondrial aminoacyl-tRNA synthetase (ARS2) deficiencies. J Inherit Metab Dis 2026. PMID 42863838. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42863838/
  10. RP1 — RP1-associated retinal dystrophies in a multicentre Korean cohort. Invest Ophthalmol Vis Sci 2026. PMID 42847597. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42847597/
  11. Preimplantation genetic testing for aneuploidy (PGT-A): variability between laboratories. Fertil Steril 2026. PMID 42854774. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42854774/
  12. DGUOK — Pleuroparenchymal fibroelastosis in DGUOK-related mitochondrial DNA depletion syndrome. Eur Respir J 2026. PMID 42860273. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42860273/
  13. Intellectual disability and developmental delay in children: genome sequencing yield. Front Neurol 2026. PMID 42851323. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42851323/
  14. TBX4 — Paediatric TBX4-associated pulmonary hypertension: CNVs versus single nucleotide variants. Pediatr Pulmonol 2026. PMID 42836726. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42836726/
  15. Fetal growth restriction: yield of chromosomal microarray and exome sequencing. Prenat Diagn 2026. PMID 42841616. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42841616/
  16. Isolated fetal pelvic kidney: prenatal genetic work-up. Prenat Diagn 2026. PMID 42841708. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42841708/
  17. CYB5A — 46,XY disorder of sex development due to CYB5A deficiency. J Clin Endocrinol Metab 2026. PMID 42839303. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42839303/
  18. CHD8 — Rare diseases: inherited variants with incomplete penetrance. medRxiv 2026. doi:10.64898/2026.10.05.26364218. Score 6/10. https://www.medrxiv.org/content/10.64898/2026.10.05.26364218v1
  19. CEP135 — CEP135-related congenital microcephaly and primary ciliary dyskinesia. Pediatr Pulmonol 2026. PMID 42829883. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42829883/
Previous week
6 October 2026