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WD repeat-containing protein 35

The WDR35 gene encodes a protein that is involved in various cell regulation processes. Diseases associated with that gene suggest a possible role in ciliary function. Mutations cause autosomal recessive disorders such as cranioectodermal dysplasia 2 and Short-rib thoracic dysplasia with or without polydactyly 7.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Cranioectodermal dysplasia 2
WDR35
Short-rib thoracic dysplasia with or without polydactyly 07
WDR35

References:

1.

Nagase T et al. (2000) Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.

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2.

Gilissen C et al. (2010) Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.

external link
3.

Mill P et al. (2011) Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.

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4.

Kannu P et al. (2007) An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings.

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5.

Feng GG et al. (2010) Naofen, a novel WD40-repeat protein, mediates spontaneous and tumor necrosis factor-induced apoptosis.

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6.

NCBI article

NCBI 57539 external link
7.

OMIM.ORG article

Omim 613602 external link
8.

Orphanet article

Orphanet ID 239955 external link
Update: Aug. 14, 2020
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