FBN1

(redirected from OCTD)
Also found in: Acronyms.

FBN1

A gene on chromosome 15q21.1 that encodes fibrillin 1, a member of the fibrillin family, which is a large, extracellular matrix glycoprotein. Fibrillin 1 provides structural component of 10–12-nm calcium-binding microfibrils, which provide force-bearing support in elastic and nonelastic connective tissue throughout the body.

Molecular pathology
FBN1 mutations are associated with Marfan syndrome, ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome and Shprintzen-Goldberg craniosynostosis syndrome.
References in periodicals archive ?
The ORA concentrations in urine from randomly selected pediatric patients with negative blood MS/MS and urine GC/MS results, adult female and male volunteers, and from male patients with OCTD, citrullinemia, or argininosuccinic aciduria are shown in Table 1.
The method can be used for routine screening of hyperammonemia or urea cycle patients and may also be used for heterozygosity testing for OCTD.
ORA, [micro]mol/mmol creatinine n (a) Mean SD Range Controls 0-1 years 40 1.51 [+ or -] 1.36 0.05-5.88 1-12 years 18 1.15 [+ or -] 1.52 0.05-5.98 Adults (b) 20 0.78 [+ or -] 0.33 0.31-1.60 Patients OCTD 3 1519.7 [+ or -] 190.8 1316-1694 Citrullinemia 5 1071.8 [+ or -] 243.5 657-1250 Argininosuccinic 10 855.8 [+ or -] 993.2 22-3271 aciduria Propionic acidemia 9 4.75 [+ or -] 7.89 0.783-25.54 (a) Number of individuals.