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Autosomal recessive primary microcephaly 5 (MCPH5) is caused by pathogenic variants in . Using whole-exome sequencing, we diagnosed two siblings with MCPH5. A known pathogenic variant (NM_018136.4: c.9697C > T, p.(Arg3233*)) and a novel pathogenic variant (c.1402_1406del, p.(Asn468Serfs*2)) of were identified in affected siblings with normal intelligence. Their pathogenic variants were not located in the critical regions of , but the relationship between the genotypes and their normal intelligence was unclear.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6943122 | PMC |
| http://dx.doi.org/10.1038/s41439-019-0088-0 | DOI Listing |
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