An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Sajida RasoolJamshaid Mahmood BaigAbubakar MoawiaIlyas AhmadMaria IqbalSyeda Seema WaseemMaria AsifUzma AbdullahEhtisham Ul Haq MakhdoomEmrah KaygusuzMuhammad ZakariaShafaq RamzanSaif Ul HaqueAsif MirIram AnjumMehak FiazZafar AliMuhammad TariqNeelam SabaWajid HussainBirgit BuddeSaba IrshadAngelika Anna NoegelStefan HöningShahid Mahmood BaigPeter NürnbergMuhammad Sajid HussainPublished in: Molecular genetics & genomic medicine (2020)
We discovered novel DNA variants, impairing the function of genes indispensable to build a proper functioning brain. Our study expands the mutational spectra of known MCPH genes and also provides supporting evidence to the pathogenicity of previously reported mutations. These novel DNA variants will be helpful for the clinicians and geneticists for establishing reliable diagnostic strategies for MCPH families.
Keyphrases
- copy number
- genome wide
- circulating tumor
- intellectual disability
- cell free
- single molecule
- zika virus
- bioinformatics analysis
- palliative care
- cell cycle
- dna methylation
- escherichia coli
- autism spectrum disorder
- gene expression
- staphylococcus aureus
- brain injury
- transcription factor
- subarachnoid hemorrhage
- genome wide analysis
- muscular dystrophy