“A discrepancy between how federal and state public health officials determine measles deaths will only increase public confusion,” write Denys T. Lau and Jennifer D. Schoendorf.

Author summary Zika virus (ZIKV) infection during pregnancy is associated with pregnancy loss, severe birth defects, including microcephaly and developmental delays, and other subtle neurologic change...

A girl born in Pennsylvania with a rare neurological disorder called Amish lethal microcephaly died of measles at around 6 weeks of age, the Lancaster County coroner said Friday.

Function of CENPJ/CPAP is essential for centriole duplication and cilia biogenesis, disruption of which can lead to microcephaly and Seckel syndrome. Recently, we showed that CPAP is an integral Endos...

Read the full paper: A primary microcephaly-associated sas-6 mutation perturbs centrosome duplication, dendrite morphogenesis, and ciliogenesis in Caenorhabditis elegans

CEP152 is essential for centriole function and neurodevelopment, and pathogenic recessive variants in CEP152 cause primary microcephaly. We identified new compound heterozygous CEP152 variants, c.314 G > A,p.(W105*) and c.2689 A > T,p.(K897*), in a microcephalic patient and analyzed them alongside a homozygous variant c.95 A > C,p.(Q32P) associated with severe microcephaly with marked gyral simplification. In vitro assays revealed distinct effects: p.K897* prevented centrosomal localization, p.W105* led to protein degradation, and p.Q32P retained centrosomal targeting but disrupted binding to Polo-like kinase 4, a key centriole biogenesis kinase and CEP152 partner. In vivo, both Cep152W105*/K897* and Cep152Q32P/Q32P knock-in mice displayed microcephaly; notably, Cep152Q32P/Q32P mice also exhibited severe cortical defects during brain development. Cellular analyses revealed centrosome dysfunction, mitotic errors, and increas

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Inherited mutations in the spindle pole-associated scaffold protein WDR62 cause autosomal recessive primary microcephaly. Previous research has characterised the roles of WDR62 in the regulation of spindle dynamics, cell division, and brain development. Here, we identify a new function of this protein in regulating purine metabolism. WDR62 interacts directly with BAG2, a co-chaperone of HSP70/90. Under stress conditions, WDR62 and BAG2 re-localise to cytoplasmic granules enriched for enzymes involved in purine synthesis (PFAS) and salvage (HPRT). In WDR62-deficient cells, purine synthesis is impaired, while purine deprivation leads to cytotoxicity and nucleoside accumulation. Furthermore, in these cells elevated BAG2 levels are linked to HPRT destabilisation, which can be reversed by BAG2 knockdown. Notably, microcephaly-associated WDR62 mutations disrupt interaction with BAG2 and fail to restore HPRT levels. In utero depletion of WDR62 or HPRT in the mouse neocortex causes premature d

Biallelic variants in RDH11, encoding retinol dehydrogenase 11, have been associated with a syndromic disorder, based on four individuals from two unr…

Human cells have two copies of each chromosome, and this balance is essential for genes to be expressed in the appropriate proportions and for cells to function correctly. When errors occur during cell division and the number of chromosomes in the cell changes, "aneuploidies" arise—a genetic alteration associated with developmental diseases, certain hereditary syndromes, and various types of cancer.

Inherited mutations in the spindle pole-associated scaffold protein WDR62 cause autosomal recessive primary microcephaly. Previous research has characterised the roles of WDR62 in the regulation of sp...

Read the full paper: The microcephaly-associated protein YIPF5 differentially regulates ER-export

ZIKV related to African strain MR766 caused neuropathology in wild Brazilian howler monkeys, implying multiple introductions and sylvatic maintenance

Saethre-Chotzen syndrome due to TWIST1 mutations is characterized by coronal synostosis, facial dysmorphism and additional variable anomalies. Small deletions comprising the whole TWIST1 account for a...