ESPE Yearbook of Paediatric Endocrinology

JAMA. 2022;327(4):350-9. doi: 10.1001/jama.2021.23686.PubMed ID: 35076666Brief summary: This study assessed the penetrance of pathogenic and loss-of-function clinical variants in 2 large population-based biobank studies. It found that the penetrance of pathogenic/loss-of-function variants was variable but generally low among such unselected populations.We are increasing...

Science. 2021;373(6557):871-6. doi: 10.1126/science.abj8754 PubMed ID: 34282049Brief summary: This study reveals a Deep Learning method, ‘RoseTTA fold’, based on DeepMind’s Alphafold2 framework, to predict 3-dimensional protein structures from 1-dimensional sequence information and generate models of protein–protein complexes with high accuracy.Previ...

N Engl J Med. 2021;385(20):1868-80. doi: 10.1056/NEJMoa2035790. PubMed ID: 34758253Brief summary: This paper describes the pilot data for the UK 100 000 Genomes Project, including Whole Genome Sequencing (WGS) data on 4660 participants from 2183 families, and covering 161 disorders. They made a genetic diagnosis in 25% of probands; diagnoses were more likely for probands who presented with inte...

Nat Metab. 2021;3(11):1552-68. doi: 10.1038/s42255-021-00481-w.PubMed ID: 34697471Brief summary: This study identified a genetic locus on mouse chromosome 17, containing the gene Ndufv2, that controls mitochondrial mass and function in adipose tissue in a sex- and tissue-specific manner. In female mice, Ndufv2 regulated the expression of 89 mitochondrial genes, with invol...

Nature. 2022;602(7895):162-8. doi: 10.1038/s41586-021-04312-6.PubMed ID: 35058638Brief summary: This study performed whole-genome sequencing (WGS) of 1013 clonal haematopoietic cell colonies from 12 adult patients aged 20–81 years with myeloproliferative neoplasms, a form of blood cancer. They identified 580 133 somatic mutations and used these to reconstruct haematopoietic clonal his...