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X-linked recessive chondrodysplasia punctata
ARSE
X-linked recessive chondrodysplasia punctata (CDPX1) is characterized by abnormal cartilage and bone development. The minimal criteria to be met to warrant ARSE gene analysis include (1) male gender, (2) nasomaxillary hypoplasia with a reduced nasofrontal angle resulting in the appearance of a flattened nose, (3) brachytelephalangy and (4) chondrodysplasia punctata, involving at least the hands and feet, in patients younger than 3 years. CDPX1 demonstrates both decreased penetrance and variable expressivity, even within families. Less severely affected individuals may have normal intellect, minimal morbidity and may achieve normal stature in adulthood. However, more severe cases may involve severe nasal hypoplasia requiring choanal stents, punctate calcifications involving the tracheobronchial tree and leading to airway complications, as well as abnormal ossification of the cervical vertebrae resulting in cervical spine stenosis and instability, requiring close follow-up, surgical interventions and early lethality in some cases. Cardiac defects, mental retardation and seizure disorders have also been described in patients with CDPX1 phenotypes. CDPX1 phenocopies may be a result of maternal illness and medication use during pregnancy as related to possible vitamin K deficiency and autoimmune diseases. As there are other forms of chondrodysplasia punctata, testing for peroxisome diseases, chromosome abnormalities and disorders of cholesterol biosynthesis are also recommended.
Using genomic DNA obtained from buccal brush samples or blood in EDTA (5cc in lavender top tube), the eleven exons of the ARSE gene are sequenced bi-directionally to evaluate for mutation in the gene. Carrier testing and prenatal diagnosis is available once the mutation in the family has been defined.
Testing for CDPX1 at GeneDx is partially supported by the CETT (Collaboration, Education and Test Translation) Program, an effort aimed at improving genotype-phenotype correlations. We kindly request that you submit the clinical data sheet along with the patient sample.
Information for non-genetics professionals
Information for parents
Clinical Data Sheet
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
ARSE
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