Journal
MOLECULAR GENETICS AND METABOLISM REPORTS
Volume 1, Issue -, Pages 213-219Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ymgmr.2014.04.004
Keywords
Congenital Disorder of Glycosylation; ALG12; CDG-Ig; ALG12-CDG; Severe skeletal dysplasia; Whole exome sequencing
Categories
Funding
- NIH [P01 HD22657, P01 HD070394, R01 AR062651, R01 DE019567, U54 HG006542, U54 HG003273-09]
- Rolanette and Berdon Lawrence Bone Disease Programof Texas
- CIHR clinician-scientist training award
- Ruth L. Kirschstein National Research Service Award [F30 MH098571-01]
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT [P01HD070394] Funding Source: NIH RePORTER
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT [P01HD022657] Funding Source: NIH RePORTER
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [U54HG006542, U54HG003273] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES [R01AR062651] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH [R01DE019567] Funding Source: NIH RePORTER
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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 neuro-developmental 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 frame-shift, 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. (C) 2014 The Authors. Published by Elsevier Inc.
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