Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.

TitleAutosomal recessive Stickler syndrome resulting from a COL9A3 mutation.
Publication TypeJournal Article
Year of Publication2018
AuthorsHanson-Kahn, A, Li, B, Cohn, DH, Nickerson, DA, Bamshad, MJ, Hudgins, L
Corporate AuthorsUniversity of Washington Center for Mendelian Genomics
JournalAm J Med Genet A
Volume176
Issue12
Pagination2887-2891
Date Published2018 Dec
ISSN1552-4833
Abstract

Stickler syndrome is a connective tissue disorder characterized by hearing loss, ocular anomalies, palatal defects, and skeletal abnormalities. The autosomal dominant form is the most common, but autosomal recessive forms have also been described. We report the second case of autosomal recessive Stickler syndrome due to homozygosity for a loss of function mutation in COL9A3, which encodes the α3 chain of type IX procollagen. The clinical features were similar to the previously described COL9A3 Stickler syndrome family, including moderate to severe sensorineural hearing loss, high myopia, and both tibial and femoral bowing at birth. Radiographs demonstrated abnormal capital femoral epiphyses and mild irregularities of the vertebral endplates. This case further establishes the phenotype associated with mutations in this gene. We suggest that loss of the α3 chain of type IX collagen results in a Stickler syndrome phenotype similar to that of the other autosomal recessive forms caused by mutations in genes encoding the α1 and α2 chains of type IX collagen.

DOI10.1002/ajmg.a.40647
Alternate JournalAm. J. Med. Genet. A
PubMed ID30450842
Grant ListR01AR062651 / / National Institute of Dental and Craniofacial Research (NIDCR) and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) of the National Institutes of Health under /
RO1AR066124 / / National Institute of Dental and Craniofacial Research (NIDCR) and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) of the National Institutes of Health under /
HG006493 / / University of Washington Center for Mendelian Genomics (UW CMG) which is funded by the National Human Genome Research Institute (NHGRI) and the National Heart, Lung and Blood Institute (NHLBI) /