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Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia
- Source :
- Molecular Genetics and Metabolism Reports, Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 213-219 (2014)
- Publication Year :
- 2014
- Publisher :
- Elsevier BV, 2014.
-
Abstract
- 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 ALG12 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 under-ossification of the pubic bones. Exome sequencing was performed and two deletions, each resulting in a frameshift, were found in ALG12. 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.
- Subjects :
- congenital, hereditary, and neonatal diseases and abnormalities
Pathology
medicine.medical_specialty
Congenital Disorder of Glycosylation
Short stature
Frameshift mutation
ALG12
03 medical and health sciences
0302 clinical medicine
Endocrinology
ALG12-CDG
Genetics
medicine
Joint dislocation
lcsh:QH301-705.5
Molecular Biology
Severe skeletal dysplasia
Exome sequencing
CDG, Congenital Disorder of Glycosylation
030304 developmental biology
lcsh:R5-920
0303 health sciences
business.industry
CDG-Ig
Whole exome sequencing
medicine.disease
Hypoplasia
3. Good health
lcsh:Biology (General)
Dysplasia
medicine.symptom
Differential diagnosis
lcsh:Medicine (General)
business
Congenital disorder of glycosylation
030217 neurology & neurosurgery
Research Paper
Subjects
Details
- ISSN :
- 22144269
- Volume :
- 1
- Database :
- OpenAIRE
- Journal :
- Molecular Genetics and Metabolism Reports
- Accession number :
- edsair.doi.dedup.....fd28a540b8ebacc4bcd20f3377ee1c35