Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia.

Authors:
Dr. Philippe M Campeau, MD, FCCMG
Dr. Philippe M Campeau, MD, FCCMG
University of Montreal
Canada
Dr. David Liu
Dr. David Liu
Washington State University
Cancer biology
Spokane, WA | United States

Mol Genet Metab Rep 2014 ;1:213-219

Medical Genetics Service, Department of Pediatrics, Sainte-Justine Hospital, University of Montreal; Medical genetics service, Room 6727, Sainte-Justine Hospital, 3175, Côte-Sainte-Catherine, Montréal QC Canada H3T 1C5.

Congenital Disorder of Glycosylation type Ig (ALG12-CDG) is part of a group of autosomal recessive conditions caused by deficiency of proteins involved in the assembly of dolichol-oligosaccharides used for protein N-glycosylation. In ALG12-CDG, the enzyme affected is encoded by the gene. Affected individuals present clinically with neurodevelopmental delay, growth retardation, immune deficiency, male genital hypoplasia, and cardiomyopathy. A total of six individuals have been reported in the literature. Here, we present an infant with rhizomelic short stature, talipes equinovarus, platyspondyly, and joint dislocations. The infant had marked underossification of the pubic bones. Exome sequencing was performed and two deletions, each resulting in frameshifts, were found in . A review of the literature revealed two infants with ALG12-CDG and a severe skeletal dysplasia, including under-ossification of cervical vertebrae, pubic bones, and knees; in addition to talipes equinovarus and rhizomelic short stature. The phenotype of the individual we describe resembles pseudodiastrophic dysplasia and we discuss similarities and differences between ALG12-CDG and pseudodiastrophic dysplasia. The differential diagnosis in selected undiagnosed skeletal dysplasias should include CDGs.

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Source
http://dx.doi.org/10.1016/j.ymgmr.2014.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4088274PMC
January 2014
68 Reads
2 Citations

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