The December issue of #EJHG is online! New genes, new discoveries, new insights in #HumanGenetics https://t.co/FIkYY67zw6

New insights into DLG3 variants reveal a broader, syndromic spectrum of X-linked Intellectual Developmental Disorder 90. #Genetics #RareDisease #Neurodevelopment https://t.co/WTjuumBv93

Whole-exome sequencing in 506 patients with #InheritedRetinalDisease shows approximately 50% diagnostic yield. Early onset & family history boost detection, while heterogeneous diseases remain challenging. #Genetics #PrecisionMedicine https://t.co/33prkGeUqX

Whole-exome sequencing in 506 patients with #InheritedRetinalDisease shows approximately 50% diagnostic yield. Early onset & family history boost detection, while heterogeneous diseases remain challenging. #Genetics #PrecisionMedicine https://t.co/33prkGeUqX

Fragile X without the repeat expansion? A rare FMR1 missense variant (p.Gln167Pro) may cause #FragileX features. https://t.co/QGuftB4DJF

Fragile X without the repeat expansion? A rare FMR1 missense variant (p.Gln167Pro) may cause #FragileX features. https://t.co/QGuftB4DJF

How do patients feel about genomic testing in primary care? Are we ready for genomic medicine at the frontline? #Genomics #PrimaryCare #PatientExperience https://t.co/FK7TG8PEEO

How do patients feel about genomic testing in primary care? Are we ready for genomic medicine at the frontline? #Genomics #PrimaryCare #PatientExperience https://t.co/FK7TG8PEEO

The December issue of #EJHG is online! New genes, new discoveries, new insights in #HumanGenetics https://t.co/FIkYY67zw6

Welcome to this month’s #JournalClub! We’re discussing: “Further delineation of defects in MRPS2 causing human OXPHOS deficiency and early developmental abnormalities in zebrafish” from the November issue of #EJHG https://t.co/9f7rDxMXuK

These findings broaden the genotypic and phenotypic spectrum of MRPS2-related disease, validate pathogenicity using both in vitro and in vivo models, and highlight the crucial role of MRPS2 for mitochondrial and early developmental function.

Additionally, zebrafish F0 knockouts using CRISPR/Cas9 technology were generated to study MRPS2 function during early development. Destabilization of the mitoribosome, developmental abnormalities, and reduced OXPHOS activity in knockout larvae compared to controls were observed.

In these cells, reduced MRPS2 expression and impaired OXPHOS complex activity were found along with altered mitochondrial morphology.

Exome sequencing was used to identify novel variants, followed by functional studies and proteomics to study patient-derived fibroblasts with MRPS2 variants.

MRPS2 encodes a key mito-ribosomal protein essential for mitochondrial translation, with defects leading to combined OXPHOS deficiency and variable clinical phenotypes.

Welcome to this month’s #JournalClub! We’re discussing: “Further delineation of defects in MRPS2 causing human OXPHOS deficiency and early developmental abnormalities in zebrafish” from the November issue of #EJHG https://t.co/9f7rDxMXuK

#AltmetricChampion of the November issue! Most discussed paper of this month: "Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementation."

#AltmetricChampion of the November issue! Most discussed paper of this month: "Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementation."

Analysis of 462 PcG/TrxG patients reveals gene- and patient-level phenotypic clusters that don’t always align with genetic diagnoses, highlighting both convergence and heterogeneity in these rare disorders. #RareDisease #Epigenetics #PcG #TrxG https://t.co/d8x0tJKzfX

Genomic testing is expanding across mainstream healthcare, but how well is it being implemented? This comprehensive review explores what works, what varies, and what still needs transformation. https://t.co/joipEPwtjv