Human Genetics Laboratory

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  • Rieger Syndrome, Type I (4q25)
  • COL2A1 Associated Connective Tissue Disorders (12q13.11)
  • COL1A1 Associated Connective Tissue Disorders (17q21.3)
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Gene(s) involved

COL1A1 located on chromosome 17q21.3. 

Brief description

COL1A1 is involved in the production of type I collagen, a protein that supports and strengthens cartilage, tendons, bone, skin, and organs. Type I collagen is the most abundant form of collagen found in the human body. Mutations and deletions in COL1A1 have been implicated in disorders such as Osteogenesis imperfecta (OI), Caffey disease (infantile cortical hyperostosis), osteoporosis, and Ehlers-Danlos syndrome, arthrochalasia type. Type I collagenopathies have a widely variable phenotype including bone fragility, inflammation of soft tissues, joint laxity, short stature, hearing loss, eye problems, and boney malformations typically in the jawbone, clavicles, and shafts of the long bones in arms and legs.

The incidence of COL1A1 associated disorders is defined by the resultant disease.  Osteogenesis imperfecta is thought to affect 1 in every 100,000 people, while only 30 cases of Ehlers-Danlos, arthrochalasia type, have been reported. The frequency of Caffey disease is unknown.   

Inheritance pattern

Type I collagenopathies are typically inherited in an autosomal dominant fashion and often arise from de novo genetic mutations. 

Genetics

Type I collagenopathies are caused by mutations or deletions in the COL1A1 gene located on chromosome 17q21.3.  

Reasons for referral

1. Confirmation of a clinical diagnosis
2. Genetic counseling
3. Identification of at-risk family members 

Test method at this facility

Array CGH. 
Mutation analysis for COL1A1 associated disorders 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/condition=ehlersdanlossyndrome)

GeneReviews: (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=oi)

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