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  • Rieger Syndrome, Type I (4q25)
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Aliases

Axenfeld-Rieger Syndrome, Type 1; RIEG1 

Gene(s) involved

PITX2 on chromosome 4q25. 

Brief description of disorder

Rieger Syndrome type I is a multiple congenital anomaly syndrome characterized by specific ocular findings, hypodontia, maxillary hypoplasia, umbilical defects, broad nasal bridge, and thin upper lip.  Associated findings include myotonic dystrophy, conductive hearing loss, growth hormone deficiency, hypospadias, and anal stenosis. Ocular manifestations include iris hypoplasia and dysplasia, aniridia, microcornea, strabismus, displaced pupils, dyscoria, polycoria, and a prominent Schwalbe line. Nearly half of affected individuals develop glaucoma leading to blindness. Rieger Syndrome type 1 is present at birth and is typically diagnosed in early childhood. Expressivity of this disorder is highly variable.

The prevalence of Rieger syndrome type 1 is unknown.  

Inheritance pattern

Rieger syndrome type 1 is inherited in an autosomal dominant fashion.   

Genetics

Rieger syndrome type 1 is caused by mutations in the PITX2 gene on chromosome 4q25. It is unclear how often deletions or duplication are detected by microarray in affected individuals.   

Reasons for referral

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

Test method at this facility

Array CGH.

Mutation analysis is not available for this disorder at this facility.

 Test sensitivity

Array CGH will detect 98-100% of deletions/ duplications; however deletions/ duplications that are smaller than 100 kb will not be detected by 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: 5-14 days 

CPT codes

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

 

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

 References

OMIM: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180500

Healthline: http://www.healthline.com/galecontent/rieger-syndrome-1

The information contained on this page is subject to change.

Updated: 10/12/2009