RGD Reference Report - WDR62 missense mutation in a consanguineous family with primary microcephaly. - Rat Genome Database

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WDR62 missense mutation in a consanguineous family with primary microcephaly.

Authors: Bacino, CA  Arriola, LA  Wiszniewska, J  Bonnen, PE 
Citation: Bacino CA, etal., Am J Med Genet A. 2012 Mar;158A(3):622-5. doi: 10.1002/ajmg.a.34417. Epub 2012 Feb 3.
RGD ID: 11541056
Pubmed: PMID:22308068   (View Abstract at PubMed)
DOI: DOI:10.1002/ajmg.a.34417   (Journal Full-text)

We report on a consanguineous couple with two affected sons who presented with primary microcephaly and moderate to severe intellectual disabilities. A SNP array uncovered two overlapping regions of copy-neutral absence of heterozygosity (AOH) in both sibs. This led to sequencing of WDR62, a gene that codes for a spindle pole protein recently identified as a cause of primary microcephaly. A homozygous missense mutation in WDR62, p.E400K, was found in both boys and segregated with the condition in this family. WDR62 is one of seven genes responsible for autosomal recessive primary microcephaly (MCPH), and appears to be one of the most frequently involved in MCPH following ASPM. Studies of ASPM and WDR62 should perhaps be pursued in all cases of primary microcephaly with or without gross brain malformations.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
primary autosomal recessive microcephaly  IAGP 11541056DNA:missense mutation:cds:c.1198G> A(p.E400K)(human)RGD 
primary autosomal recessive microcephaly  ISOWDR62 (Homo sapiens)11541056; 11541056DNA:missense mutation:cds:c.1198G> A(p.E400K)(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Wdr62  (WD repeat domain 62)

Genes (Mus musculus)
Wdr62  (WD repeat domain 62)

Genes (Homo sapiens)
WDR62  (WD repeat domain 62)


Additional Information