Abstract:
OBJECTIVE:Creatine kinase (CK) levels are increased on dried blood spots in newborns related to the birthing process. As a marker for newborn screening, CK in Duchenne muscular dystrophy (DMD) results in false-positive testing. In this report, we introduce a 2-tier system using the dried blood spot to first assess CK with follow-up DMD gene testing. METHODS:A fluorometric assay based upon the enzymatic transphosphorylation of adenosine diphosphate to adenosine triphosphate was used to measure CK activity. Preliminary studies established a population-based range of CK in newborns using 30,547 deidentified anonymous dried blood spot samples. Mutation analysis used genomic DNA extracted from the dried blood spot followed by whole genome amplification with assessment of single-/multiexon deletions/duplications in the DMD gene using multiplex ligation-dependent probe amplification. RESULTS:DMD gene mutations (all exonic deletions) were found in 6 of 37,649 newborn male subjects, all of whom had CK levels>2,000U/l. In 3 newborns with CK>2,000U/l in whom DMD gene abnormalities were not found, we identified limb-girdle muscular dystrophy gene mutations affecting DYSF, SGCB, and FKRP. INTERPRETATION:A 2-tier system of analysis for newborn screening for DMD has been established. This path for newborn screening fits our health care system, minimizes false-positive testing, and uses predetermined levels of CK on dried blood spots to predict DMD gene mutations.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Mendell JR,Shilling C,Leslie ND,Flanigan KM,al-Dahhak R,Gastier-Foster J,Kneile K,Dunn DM,Duval B,Aoyagi A,Hamil C,Mahmoud M,Roush K,Bird L,Rankin C,Lilly H,Street N,Chandrasekar R,Weiss RBdoi
10.1002/ana.23528subject
Has Abstractpub_date
2012-03-01 00:00:00pages
304-13issue
3eissn
0364-5134issn
1531-8249journal_volume
71pub_type
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