Bardet-Biedl Syndrome via the TRIM32/BBS11 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
8837 TRIM32 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8837TRIM3281479 81479 $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average

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Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Bardet-Biedl syndrome (BBS) is characterized by retinal degeneration, obesity, post-axial polydactyly, cognitive impairment, hypogenitalism, and renal and cardiovascular anomalies (Green et al. N Engl J Med 321:1002-1009, 1989; Elbedour et al. Am J Med Genet 52:164-169, 1994). Limb-girdle muscular dystrophy type 2H (LGMD2H) (OMIM# 254110) is a mild myopathy characterized by muscle weakness and wasting restricted to the proximal limbs (Frosk et al. Hum Mutat 25:38-44, 2005). Both LGMD2H and Bardet-Biedl syndrome 11 (BBS11) (OMIM# 602290) are caused by variants in TRIM32/BBS11 gene (Forsk et al. 2005; Chiang et al. Proc Nat Acad Sci USA103:6287-6292, 2006).

Genetics

LGMD2H and BBS are inherited as autosomal recessive disorders, although complex inheritance has been reported in a few BBS families (Katsanis et al. Science 293:2256-2259, 2001). TRIM32/BBS11 encodes a tripartite motif (TRIM)-containing protein 32 (TRIM32). TRIM32 has domain structure composed of a RING finger, a B-box, and a coiled-coil motif important for E3 ubiquitin ligase activity, along with five C-terminal NHL repeats important for protein-protein interaction (Kudryashova et al. J Molec Biol 354:413-424, 2005). Although the precise function of TRIM32 is not yet known, TRIM32 has been implicating in regulating components of the cytoskeleton (Kudryashova et al. 2005). A TRIM32 missense variant (p.Pro130Leu) has been reported in a BBS family (Chiang et al. Proc Nat Acad Sci USA 103:6287-6292, 2006). BBS exhibits locus heterogeneity; at least 12 BBS genes have been identified (BBS1, BBS2, BBS3, BBS4, BBS5, MKKS/BBS6, BBS7, TTC8/BBS8, BBS9, BBS10, TRIM32/BBS11, and BBS12) (Tobin and Beales, Genet Med 11:386-402, 2009). In addition, hypomorphic variants in two Meckel-Gruber syndrome genes (MKS1 and CEP290) were reported to be associated with BBS, representing BBS13 and BBS14 respectively (Leitch et al. Nat Genet 40:443-448, 2008).

Testing Strategy

This test provides full coverage of all coding exons of the TRIM32 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Clinical Sensitivity - Sequencing with CNV PG-Select

Variants in the TRIM32/BBS11 gene are estimated to cause < 1% of BBS cases (Chiang et al. Proc Natl Acad Sci USA 103:6287-6292, 2006).

Indications for Test

Candidates for this test are patients with symptoms consistent with BBS and the family members of patients who have known TRIM32/BBS11 variants. Conclusive connections between clinical features and individual mutated BBS genes have not yet been made. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in TRIM32.

Gene

Official Gene Symbol OMIM ID
TRIM32 602290
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Bardet-Biedl Syndrome 11 AR 615988

Related Tests

Name
Bardet-Biedl Syndrome via the ARL6/BBS3 Gene
Bardet-Biedl Syndrome via the BBS2 Gene
Bardet-Biedl Syndrome via the BBS4 Gene
Bardet-Biedl Syndrome via the BBS5 Gene
Bardet-Biedl Syndrome via the BBS9 Gene
Bardet-Biedl Syndrome via the MKKS/BBS6 Gene
Joubert and Meckel-Gruber Syndromes via the CEP290 Gene
Joubert Syndrome, Meckel-Gruber Syndrome, and Nephronophthisis via the TMEM67 Gene
Nephronophthisis / Senior-Loken Syndrome and Bardet-Biedl Syndrome via the SDCCAG8 Gene

Citations

  • Chiang, A. P., et.al. (2006). "Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)." Proc Natl Acad Sci USA 103(16): 6287-92. PubMed ID: 16606853
  • Elbedour K, Zucker N, Zalzstein E, Barki Y, Carmi R. 1994. Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients. Am. J. Med. Genet. 52: 164–169. PubMed ID: 7802002
  • Frosk, P., et.al. (2005). "The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations." Hum Mutat 25(1): 38-44. PubMed ID: 15580560
  • Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, Heath O, McManamon PJ, O’Leary E, Pryse-Phillips W. 1989. The cardinal manifestations of Bardet–Biedl syndrome, a form of Laurence–Moon–Biedl syndrome. New England Journal of Medicine 321: 1002–1009. PubMed ID: 2779627
  • Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, Scambler PJ, Davidson WS, Beales PL, Lupski JR. 2001. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 293: 2256–2259. PubMed ID: 11567139
  • Kudryashova, E., et.al. (2005). "Trim32 is a ubiquitin ligase mutated in limb girdle muscular dystrophy type 2H that binds to skeletal muscle myosin and ubiquitinates actin." J Mol Biol 354(2): 413-24. PubMed ID: 16243356
  • Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Al-Fadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, et al. 2008. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nature Genetics 40: 443–448. PubMed ID: 18327255
  • Tobin, J. L., Beales, P. L. (2009). "The nonmotile ciliopathies." Genet Med 11(6): 386-402. PubMed ID: 19421068

Ordering/Specimens

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