Get access

Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism

Authors

  • Jessica M. Comstock,

    Corresponding author
    1. Division of Pediatric Pathology, Department of Pathology, University of Utah, Utah
    2. Primary Children's Medical Center, Salt Lake City, Utah
    • Primary Children's Medical Center, Department of Pathology, 100 North Mario Capecchi Drive, Salt Lake City, UT 84113.
    Search for more papers by this author
  • Angelica R. Putnam,

    1. Division of Pediatric Pathology, Department of Pathology, University of Utah, Utah
    2. Primary Children's Medical Center, Salt Lake City, Utah
    Search for more papers by this author
  • Nikhil Sangle,

    1. Division of Pediatric Pathology, Department of Pathology, University of Utah, Utah
    2. Primary Children's Medical Center, Salt Lake City, Utah
    Search for more papers by this author
  • Amy Lowichik,

    1. Division of Pediatric Pathology, Department of Pathology, University of Utah, Utah
    2. Primary Children's Medical Center, Salt Lake City, Utah
    Search for more papers by this author
  • Nancy C. Rose,

    1. Maternal-Fetal Medicine, Intermountain Health Care, Salt Lake City, Utah
    2. Pediatrics (Medical Genetics), University of Utah, Salt Lake City, Utah
    3. Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah
    Search for more papers by this author
  • John M. Opitz

    1. Division of Pediatric Pathology, Department of Pathology, University of Utah, Utah
    2. Primary Children's Medical Center, Salt Lake City, Utah
    3. Pediatrics (Medical Genetics), University of Utah, Salt Lake City, Utah
    4. Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah
    5. Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah
    Search for more papers by this author

  • How to cite this article: Comstock JM, Putnam AR, Sangle N, Lowichik A, Rose NC, Opitz JM. 2010. Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism. Am J Med Genet Part A 152A:1822–1824.

Abstract

Achondrogenesis Type II (ACG2) is a lethal skeletal disorder caused by a dominant mutation in the type II collagen gene (COL2A1). Familial cases have been reported, suggesting both germline and somatic mosaicism. We report on two pregnancies from the same couple with gross, radiologic, and microscopic findings of ACG2. Molecular analysis of the second infant demonstrated heterozygosity for a c.2303G > A transition (p.Gly768Asp) in exon 33 of the COL2A1 gene. Although this mutation could not be proven by molecular studies in the first infant, identical findings in two affected pregnancies support germline mosaicism as the cause of ACG2 in this family. © 2010 Wiley-Liss, Inc.

Ancillary