Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Semaphorin-3E

The SEMA3E gene encodes a semaphorin which are extracellular proteins with regulatory functions such as axonal growth. Mutations probably cause autosomal dominant CHARGE syndrome.

Genetests:

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

Related Diseases:

CHARGE syndrome
CHD7
TBX18

References:

1.

Nagase T et. al. (1997) Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

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2.

Christensen CR et. al. (1998) Transcription of a novel mouse semaphorin gene, M-semaH, correlates with the metastatic ability of mouse tumor cell lines.

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3.

Martin DM et. al. (2001) CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11).

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4.

Lalani SR et. al. (2004) SEMA3E mutation in a patient with CHARGE syndrome.

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5.

Gu C et. al. (2005) Semaphorin 3E and plexin-D1 control vascular pattern independently of neuropilins.

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6.

Pecho-Vrieseling E et. al. (2009) Specificity of sensory-motor connections encoded by Sema3e-Plxnd1 recognition.

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7.

Cariboni A et. al. (2015) Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.

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Update: Sept. 26, 2018