Constitutional genetics

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Constitutional genetics

Week of 7 July 2026

8 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

►CDK20 — novel severe ciliopathy gene, validated by functional evidence (ciliogenesis, Hedgehog).
►SMN1 — a dedicated variant caller enables reliable short-read WGS detection, key for SMA screening.
►CMIP — causality finally established in neurodevelopmental disorders with strong neuropsychiatric features.
►TMEM63B — bi-allelic loss of function causes surfactant dysfunction, mirroring the gain-of-function variants.

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Autosomal recessivePubMed

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies.

Severe ciliopathy with midline brain and facial anomalies

New geneFunctional SNV

Am J Hum Genet 2026· JulRead

Ménière disease

Genome-wide analysis implicates inner ear development in Ménière disease.

Ménière disease

Am J Hum Genet 2026· JunRead

Autosomal recessivePubMed

Characterisation of the SMN1/SMN2 locus using a highly specific variant caller on whole-genome sequence data from 500,000 individuals.

Spinal muscular atrophy (SMA)

Newborn screening

Eur J Hum Genet 2026· JulRead

Leukodystrophies

Characterization of Leukodystrophy Penetrance Using Large-Scale Integration of Genomic Population Screening and Electronic Health Records

Leukodystrophies

medRxiv 2026· JulRead

Autosomal recessivePubMed

Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder.

Syndromic surfactant dysfunction disorder (childhood interstitial lung disease)

New genePhenotypic expansion

Am J Hum Genet 2026· JunRead

Autosomal dominantPubMed

CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders.

CMIP-related neurodevelopmental and neuropsychiatric disorder

NeurodevelopmentNew genePhenotypic expansion

Eur J Hum Genet 2026· JulRead

Metabolism / Epilepsy

Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy.

Adult developmental and epileptic encephalopathy

Metabolism / Epilepsy

Epilepsia 2026· JulRead

Genome sequencing identifies monogenic causes in adults with metabolic diseases.

Adult metabolic diseases (dyslipidaemia, type 2 diabetes, MAFLD/MASH)

J Endocr Soc 2026· JunRead

References and sources

CDK20 — Severe ciliopathy with midline brain and facial anomalies. Am J Hum Genet 2026. PMID 42409022. Score 10/10. https://pubmed.ncbi.nlm.nih.gov/42409022/
Ménière disease. Am J Hum Genet 2026. PMID 42302782. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42302782/
SMN1 — Spinal muscular atrophy (SMA). Eur J Hum Genet 2026. PMID 42393335. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42393335/
Leukodystrophies. medRxiv 2026. doi:10.64898/2026.07.04.26356970. Score 9/10. https://www.medrxiv.org/content/10.64898/2026.07.04.26356970v1
TMEM63B — Syndromic surfactant dysfunction disorder (childhood interstitial lung disease). Am J Hum Genet 2026. PMID 42259295. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42259295/
CMIP — CMIP-related neurodevelopmental and neuropsychiatric disorder. Eur J Hum Genet 2026. PMID 42386996. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42386996/
Adult developmental and epileptic encephalopathy. Epilepsia 2026. PMID 42400436. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42400436/
Adult metabolic diseases (dyslipidaemia, type 2 diabetes, MAFLD/MASH). J Endocr Soc 2026. PMID 42255514. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42255514/