Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Alpha-1,2-mannosyltransferase ALG9

The ALG9 gene encodes an important enzyme of of glycosylation metabolism. Mutations cause autosomal recessive gycosylation disorder type 1L and Gillessen-Kaesbach-Nishimura 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:

Congenital disorder of glycosylation 1L
ALG9
Gillessen-Kaesbach-Nishimura syndrome
ALG9

References:

1.

Baysal BE et. al. (1998) Bipolar affective disorder partially cosegregates with a balanced t(9;11)(p24;q23.1) chromosomal translocation in a small pedigree.

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2.

Baysal BE et. al. (2002) A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family.

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3.

Frank CG et. al. (2004) Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.

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4.

Weinstein M et. al. (2005) CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.

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5.

Tham E et. al. (2016) A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.

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Update: Sept. 26, 2018