RGD Reference Report - A novel single base pair duplication in WDR62 causes primary microcephaly. - Rat Genome Database

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A novel single base pair duplication in WDR62 causes primary microcephaly.

Authors: Rupp, V  Rauf, S  Naveed, I  Windpassinger, C  Mir, A 
Citation: Rupp V, etal., BMC Med Genet. 2014 Oct 11;15:107. doi: 10.1186/s12881-014-0107-4.
RGD ID: 11541051
Pubmed: PMID:25303973   (View Abstract at PubMed)
PMCID: PMC4258795   (View Article at PubMed Central)
DOI: DOI:10.1186/s12881-014-0107-4   (Journal Full-text)

BACKGROUND: Primary microcephaly is a disorder of the brain resulting in a reduced head circumference that can come along with intellectual disability but with hardly any other neurological abnormalities. CASE PRESENTATION: In this study we report on three Pakistani males from a consanguineous family with 2, 4 and 25 years, diagnosed with autosomal recessive primary microcephaly. By genotyping, Sanger sequencing and using bioinformatical approaches the disease causing mutation was identified and evaluated. CONCLUSION: By using a 250K SNP array, we were able to detect an 11Mb large autozygous region in the MCPH2 locus on chromosome 19q13.12. Sequencing of the associated gene, WDR62, revealed the frameshift causing single base pair duplication, c.2527dupG. This mutation is predicted to affect the structural features of WDR62 which in turn changes the conformation and function of the protein. Aspartic acid (D) at position 843 was found to be conserved among various ortholog species. The present findings will be helpful in genetic diagnosis of patients and future studies of WDR62.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
primary autosomal recessive microcephaly  IAGP 11541051DNA:duplication:cds: c.2527dupG (p.D843GfsX3)(human)RGD 
primary autosomal recessive microcephaly  ISOWDR62 (Homo sapiens)11541051; 11541051DNA:duplication:cds: c.2527dupG (p.D843GfsX3)(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