Constitutional genetics

Week of 20 October 2026

17 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

►UQCC1 — new complex III deficiency gene: 9 patients from 8 families, functional rescue in fibroblasts (preprint).
►CD36 — the Y325Ter variant accounts for 9.0% of dilated cardiomyopathy in African ancestry, versus 3.7% for TTN truncating variants.
►HYDIN — nasal RNA-seq resolves 11 of 13 primary ciliary dyskinesia cases and reveals a recurrent 10 kb deletion.
►CNPY3 — 50 patients from 38 families: DEE with median onset at 68 days, 38% early mortality, truncating variants more severe.
►22q11.2 deletion — in 3016 patients, deletion size and genetic background shape the type of congenital heart disease.
►Long-read genome — in Sweden, 161 diagnoses among 485 probands, with long-read sequencing adding value in 24.8% of them (preprint).
►FGFR1 — a recurrent intronic variant, c.92-19G>A, causes congenital hypogonadotropic hypogonadism missed by exon-only analysis.

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Deletion size and background genetic variation shape congenital heart disease phenotypes in 3016 individuals with 22q11.2 deletion syndrome.

22q11.2 deletion syndrome — congenital heart disease

J Med Genet 2026· OctRead

A Common CD36 Variant and the Genetic Landscape of Dilated Cardiomyopathy in Individuals of African Ancestry.

Dilated cardiomyopathy in individuals of African ancestry

CardiologyRecurrent variant

JAMA 2026· OctRead

Autosomal recessivePubMed

CNPY3 variants associated with a recessive developmental and epileptic encephalopathy affect inflammasome and TLR function.

CNPY3-related developmental and epileptic encephalopathy

NeurodevelopmentFunctional SNVNew mechanism

EBioMedicine 2026· OctRead

Autosomal recessivePubMed

Characterization of familial short stature with or without skeletal dysplasia in a Pakistani cohort reveals founder mutations as well as novel variants.

Familial short stature with or without skeletal dysplasia

Recurrent variant

Hum Genet 2026· OctRead

Autosomal recessivemedRxiv

Bi-allelic UQCC1 variants impair mitochondrial complex III assembly causing early-onset mitochondrial disease

UQCC1-related mitochondrial complex III deficiency

New geneFunctional SNV

medRxiv 2026· OctRead

Autosomal recessivePubMed

Genotype-phenotype correlation in partial combined 17α-hydroxylase/17,20-lyase deficiency: functional characterization of CYP17A1 variants in ten 46,XY patients.

Partial combined 17α-hydroxylase/17,20-lyase deficiency (46,XY)

Functional SNVRecurrent variant

J Clin Endocrinol Metab 2026· OctRead

Autosomal recessivePubMed

RNA sequencing significantly improves HYDIN diagnosis and defines the effects of common deletions in primary ciliary dyskinesia.

HYDIN-related primary ciliary dyskinesia

WGS / DiagnosisDiagnostic RNA-seqDiagnostic yield

Eur J Hum Genet 2026· OctRead

THE GENETIC LANDSCAPE OF HEREDITARY SPASTIC PARAPLEGIA IN CANADA

Hereditary spastic paraplegia

WGS / DiagnosisDiagnostic yield

medRxiv 2026· OctRead

GALNT3, GALNT8, GALNTL5

Pathogenic variants in GALNT3, GALNT8, and GALNTL5 are associated with distinct sperm defects in human asthenoteratozoospermia.

Asthenoteratozoospermia (male infertility)

Fertil Steril 2026· OctRead

Autosomal recessivePubMed

Pyrophosphatase 2 Deficiency: Clinical Presentation, Diagnosis and Management.

Pyrophosphatase 2 deficiency (sudden cardiac death, acute heart failure)

CardiologyTherapeutic implication

Circ Genom Precis Med 2026· OctRead

Next-Generation Sequencing to Identify Genetic Causes of Chinese Patients Affected With Non-retinal Developmental Eye Disorders.

Non-retinal developmental eye disorders

Hum Mutat 2026· OctRead

A national ecosystem for long-read genome sequencing: Integrating population genomics and rare disease diagnostics in Sweden

Rare diseases — long-read genome sequencing in diagnostics

Long-read WGSLong-read sequencingDiagnostic yield

medRxiv 2026· OctRead

Autosomal dominantPubMed

Recurring and isolated intronic FGFR1 variants as an underdiagnosed cause of congenital hypogonadotropic hypogonadism.

Congenital hypogonadotropic hypogonadism and Kallmann syndrome

Recurrent variantFunctional SNV

J Endocr Soc 2026· OctRead

WGS / Diagnosis

Chromosomal and genetic causes of primary ovarian insufficiency in the Utah population.

Primary ovarian insufficiency

WGS / DiagnosisDiagnostic yield

J Endocr Soc 2026· OctRead

Expanding Clinical and Variant Spectrum of CBX1-Related Syndrome: Report of Three Novel Cases.

CBX1-related syndrome (neurodevelopmental disorder)

NeurodevelopmentPhenotypic expansionFunctional SNV

Clin Genet 2026· OctRead

X-linked novel hemizygous ADGRG2 variants associated with male factor infertility.

Congenital bilateral absence of the vas deferens (male infertility)

J Assist Reprod Genet 2026· OctRead

WGS / Diagnosis

Integrated Clinical-Genomic Reanalysis Identifies Diagnostic Gaps and Candidate Genes in a Pediatric Rare Disease Cohort.

Unresolved paediatric rare diseases

WGS / DiagnosisGenomic reanalysisDiagnostic RNA-seq

medRxiv 2026· SepRead

References and sources

22q11.2 deletion syndrome — congenital heart disease. J Med Genet 2026. PMID 42875165. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42875165/
CD36 — Dilated cardiomyopathy in individuals of African ancestry. JAMA 2026. PMID 42895716. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42895716/
CNPY3 — CNPY3-related developmental and epileptic encephalopathy. EBioMedicine 2026. PMID 42874293. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42874293/
GHRHR, AARS2 — Familial short stature with or without skeletal dysplasia. Hum Genet 2026. PMID 42873299. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42873299/
UQCC1 — UQCC1-related mitochondrial complex III deficiency. medRxiv 2026. doi:10.64898/2026.10.19.26365523. Score 7/10. https://www.medrxiv.org/content/10.64898/2026.10.19.26365523v1
CYP17A1 — Partial combined 17α-hydroxylase/17,20-lyase deficiency (46,XY). J Clin Endocrinol Metab 2026. PMID 42873546. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42873546/
HYDIN — HYDIN-related primary ciliary dyskinesia. Eur J Hum Genet 2026. PMID 42888219. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42888219/
SPAST — Hereditary spastic paraplegia. medRxiv 2026. doi:10.64898/2026.10.14.26365432. Score 7/10. https://www.medrxiv.org/content/10.64898/2026.10.14.26365432v1
GALNT3, GALNT8, GALNTL5 — Asthenoteratozoospermia (male infertility). Fertil Steril 2026. PMID 42892435. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42892435/
PPA2 — Pyrophosphatase 2 deficiency (sudden cardiac death, acute heart failure). Circ Genom Precis Med 2026. PMID 42895022. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42895022/
PAX6 — Non-retinal developmental eye disorders. Hum Mutat 2026. PMID 42891061. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42891061/
Rare diseases — long-read genome sequencing in diagnostics. medRxiv 2026. doi:10.64898/2026.10.09.26365121. Score 6/10. https://www.medrxiv.org/content/10.64898/2026.10.09.26365121v1
FGFR1 — Congenital hypogonadotropic hypogonadism and Kallmann syndrome. J Endocr Soc 2026. PMID 42890469. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42890469/
Primary ovarian insufficiency. J Endocr Soc 2026. PMID 42891080. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42891080/
ADGRG2 — Congenital bilateral absence of the vas deferens (male infertility). J Assist Reprod Genet 2026. PMID 42895690. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42895690/
Unresolved paediatric rare diseases. medRxiv 2026. PMID 42856589. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42856589/
CBX1 — CBX1-related syndrome (neurodevelopmental disorder). Clin Genet 2026. PMID 42867044. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42867044/

13 October 2026