RGD Reference Report - Novel splice-site mutation in WDR62 revealed by whole-exome sequencing in a Sudanese family with primary microcephaly. - Rat Genome Database

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Novel splice-site mutation in WDR62 revealed by whole-exome sequencing in a Sudanese family with primary microcephaly.

Authors: Bastaki, F  Mohamed, M  Nair, P  Saif, F  Tawfiq, N  Aithala, G  El-Halik, M  Al-Ali, M  Hamzeh, AR 
Citation: Bastaki F, etal., Congenit Anom (Kyoto). 2016 May;56(3):135-7. doi: 10.1111/cga.12144.
RGD ID: 11537473
Pubmed: PMID:26577670   (View Abstract at PubMed)
DOI: DOI:10.1111/cga.12144   (Journal Full-text)

The WDR62 gene encodes a scaffold protein of the c-Jun N-terminal kinase (JNK) pathway. It plays a critical role in laying out various cellular layers in the cerebral cortex during embryogenesis, and hence the dramatic clinical features resulting from WDR62 mutations. These mutations are associated with autosomal recessive primary microcephaly 2, with or without cortical malformations (MCPH2). Using whole exome sequencing we uncovered a novel WDR62 variant; c.390G > A, from two Sudanese siblings whose parents are first cousins. The patients suffered MCPH2 with incomplete lissencephaly and developmental delay. The mutation affects the last nucleotide of exon4, and probably leads to aberrant splicing, which may result in a truncated protein lacking all functional domains.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
primary autosomal recessive microcephaly 2 with or without cortical malformations  IAGP 11537473DNA:mutation:cds:c.390G > A(human)RGD 
primary autosomal recessive microcephaly 2 with or without cortical malformations  ISOWDR62 (Homo sapiens)11537473; 11537473DNA:mutation:cds:c.390G > A(human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Global developmental delay  IAGP 11537473DNA:mutation:cds:c.390G > A(human)RGD 
Lissencephaly  IAGP 11537473DNA:mutation:cds:c.390G > A(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