University of Nebraska Medical Center - COL2A1 Associated Connective Tissue Disorders (12q13.11)

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COL2A1 Associated Connective Tissue Disorders (12q13.11)

Gene(s) involved

COL2A1 located on chromosome 12q13.11.

Brief description

COL2A1 is involved in the production of type II collagen. Type II collagen is primarily found in cartilage and provides connective tissues with structure and strength in order to support muscles, joints, skin, and organs. In addition to the cartilage that covers and protects bones, Type II collagen is found in the eye (vitreous fluid), nose, outer and inner ear, and the nucleus pulposus in the spine. Disorders associated with mutations and deletions of the COL2A1 gene are termed as “type II collagenopathies” and are characterized by skeletal malformations such as short fingers and toes, shortened arms and legs, short stature, unequal bone length in the legs and/ or arms, flattened vertebrae, and distinct craniofacial findings. Additional clinical findings include conductive hearing loss, immune disorder, joint problems, over-flexibility of the joints, vision problems, retinal detachment, a flattened chest, and hip problems.

The incidence of COL2A1 associated disorders is unknown, however the prevalence of hereditary conditions of bone and cartilage is thought to lie between 250 and 350 cases per million.

Associated Disorders

Achondrogenesis, Type II
Achondrogenesis-Hypochondrogenesis, Type II
Avascular Necrosis of the Femoral Head (Legg-Calve-Perthes Disease)
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
Hypochondrogenesis
Kniest Dysplasia
Osteoarthritis with mild Chondrodysplasia
Otospondylomegaepiphyseal Dysplasia
Platyspondylic Skeletal Dysplasia, Torrance Type
Rhegmatogenous Retinal Detachment, Autosomal Dominant
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Spondyloepiphyseal Dysplasia Congenita
Spondyloepiphyseal Dysplasia with Precocious Osteoarthritis
Spondyloepiphyseal Dysplasia, Namaqualand Type
Spondyloperipheral Dysphasia
Stickler Syndrome, Type I
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia

Inheritance pattern

Type II collagenopathies may be inherited in an X-linked or autosomal dominant fashion and often arise from de novo genetic mutations.

Genetics

Type II collagenopathies are caused by mutations or deletions in the COL2A1 gene located on chromosome 12q13.11.

Reasons for referral

Confirmation of a clinical diagnosis
Genetic counseling
Identification of at-risk family members

Test method at this facility

Array CGH.
Mutation analysis for type II collagenopathies is not offered at this facility.

Test sensitivity

Array CGH will detect 98-100% of deletions/ duplications; however, deletions/ duplications smaller than 100 kb will not be detected on aCGH.

Specimen requirements

For aCGH:

Blood:

Adult: 3-5 ml peripheral blood in a sodium-heparin tube.
Newborn: 1-3 ml blood in a sodium-heparin tube.

Transport at room temperature. Deliver ASAP with a completed Cytogenetics & Molecular Cytogenetics Requisition form. Notify HGL by calling (402) 559-5070 when specimen is being shipped.

Shipping and handling information

Turn-around-time

Array CGH: 7-14 days

CPT codes

Array CGH - 83892 (x2), 88384, 88386, 88230, 88385, 88291

**Additional costs for DNA extraction and storage may apply.**

References

Genetic Home Reference: (http://ghr.nlm.nih.gov/gene=col2a1)
OMIM: (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140)

The information contained on this page is subject to change.

Updated: 10/9/2009

Human Genetics Laboratory