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Consanguinity due to extensive homozygosity unravels many recessive phenotypes and facilitates the detection of novel gene-disease links. Here, we report two siblings with phenotypic signs, including intellectual disability (ID), developmental delay and microcephaly from a Pakistani consanguineous family in which we have identified homozygosity for p(Tyr103His) in the PSMB1 gene (Genbank NM_002793) that segregated with the disease phenotype. PSMB1 encodes a \u03b2-type proteasome subunit (i.e. \u03b26). Modeling of the p(Tyr103His) variant indicates that this variant weakens the interactions between PSMB1\/\u03b26 and PSMA5\/\u03b15 proteasome subunits and thus destabilizes the 20S proteasome complex. Biochemical experiments in human SHSY5Y cells revealed that the p(Tyr103His) variant affects both the processing of PSMB1\/\u03b26 and its incorporation into proteasome, thus impairing proteasome activity. CRISPR\/Cas9 mutagenesis or morpholino knock-down of the single psmb1 zebrafish orthologue resulted in microcephaly, microphthalmia and reduced brain size. Genetic evidence in the family and functional experiments in human cells and zebrafish indicates that PSMB1\/\u03b26 pathogenic variants are the cause of a recessive disease with ID, microcephaly and developmental delay due to abnormal proteasome assembly.<\/jats:p>","DOI":"10.1093\/hmg\/ddaa032","type":"journal-article","created":{"date-parts":[[2020,2,25]],"date-time":"2020-02-25T20:13:31Z","timestamp":1582661611000},"page":"1132-1143","source":"Crossref","is-referenced-by-count":43,"title":["Biallelic variants in PSMB1 encoding the proteasome subunit \u03b26 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature"],"prefix":"10.1093","volume":"29","author":[{"given":"Muhammad","family":"Ansar","sequence":"first","affiliation":[{"name":"Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Ebstein","sequence":"first","affiliation":[{"name":"Institut f\u00fcr Medizinische Biochemie und Molekularbiologie, Universit\u00e4tsmedizin Greifswald, Greifswald 17475, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hayriye","family":"\u00d6zko\u00e7","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics, University of Zurich, Schlieren 8952, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sohail A","family":"Paracha","sequence":"first","affiliation":[{"name":"Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justyna","family":"Iwaszkiewicz","sequence":"first","affiliation":[{"name":"Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Gesemann","sequence":"first","affiliation":[{"name":"Department of Molecular Life Sciences, University of Zurich, Zurich 8057, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Zoete","sequence":"first","affiliation":[{"name":"Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland"},{"name":"Department of Fundamental Oncology, Ludwig Institute for Cancer Research, Lausanne University, Epalinges 1066, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Ranza","sequence":"first","affiliation":[{"name":"Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland"},{"name":"Service of Genetic Medicine, University Hospitals of Geneva, Geneva 1205, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico A","family":"Santoni","sequence":"first","affiliation":[{"name":"Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland"},{"name":"Department of Endocrinology Diabetes and Metabolism, Lausanne University Hospital, Lausanne 1011, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad T","family":"Sarwar","sequence":"first","affiliation":[{"name":"Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jawad","family":"Ahmed","sequence":"first","affiliation":[{"name":"Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elke","family":"Kr\u00fcger","sequence":"first","affiliation":[{"name":"Institut f\u00fcr Medizinische Biochemie und Molekularbiologie, Universit\u00e4tsmedizin Greifswald, Greifswald 17475, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruxandra","family":"Bachmann-Gagescu","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics, University of Zurich, Schlieren 8952, Switzerland"},{"name":"Department of Molecular Life Sciences, University of Zurich, Zurich 8057, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stylianos E","family":"Antonarakis","sequence":"first","affiliation":[{"name":"Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland"},{"name":"Service of Genetic Medicine, University Hospitals of Geneva, Geneva 1205, Switzerland"},{"name":"iGE3 Institute of Genetics and Genomics of Geneva, Geneva 1211, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,3,4]]},"reference":[{"key":"2020050807075093100_ref1","first-page":"443","article-title":"Sickle cell anemia, a molecular 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