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Bardet-Biedl syndrome 10(BBS10)

MedGen UID:
347909
•Concept ID:
C1859568
•
Disease or Syndrome
Synonym: BBS10
 
Gene (location): BBS10 (12q21.2)
 
Monarch Initiative: MONDO:0014438
OMIM®: 615987

Definition

BBS10 is characterized by progressive retinal dystrophy, obesity, polydactyly, cognitive impairment, and renal dysplasia (Stoetzel et al., 2006). BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients (Stoetzel et al., 2006; Zaghloul and Katsanis, 2009). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). [from OMIM]

Clinical features

From HPO
Renal insufficiency
MedGen UID:
332529
•Concept ID:
C1565489
•
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
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Renal cyst
MedGen UID:
854361
•Concept ID:
C3887499
•
Disease or Syndrome
A fluid filled sac in the kidney.
See: Feature record | Search on this feature
Polydactyly
MedGen UID:
57774
•Concept ID:
C0152427
•
Congenital Abnormality
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
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Obesity
MedGen UID:
18127
•Concept ID:
C0028754
•
Disease or Syndrome
Accumulation of substantial excess body fat.
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Intellectual disability, mild
MedGen UID:
10044
•Concept ID:
C0026106
•
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
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Seizure
MedGen UID:
20693
•Concept ID:
C0036572
•
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
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Global developmental delay
MedGen UID:
107838
•Concept ID:
C0557874
•
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
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Hypogonadism
MedGen UID:
5711
•Concept ID:
C0020619
•
Disease or Syndrome
A decreased functionality of the gonad.
See: Feature record | Search on this feature
Retinal dystrophy
MedGen UID:
208903
•Concept ID:
C0854723
•
Finding
Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.
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Rod-cone dystrophy
MedGen UID:
1632921
•Concept ID:
C4551714
•
Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
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Professional guidelines

Curated

Clinical utility gene card for: Bardet-Biedl syndrome.
Slavotinek A, Beales P
Eur J Hum Genet 2011 Mar;19(3) Epub 2010 Dec 8 doi: 10.1038/ejhg.2010.199. PMID: 21150877Free PMC Article

Recent clinical studies

Etiology

Progressive retinal degeneration of rods and cones in a Bardet-Biedl syndrome type 10 mouse model.
Mayer SK, Thomas J, Helms M, Kothapalli A, Cherascu I, Salesevic A, Stalter E, Wang K, Datta P, Searby C, Seo S, Hsu Y, Bhattarai S, Sheffield VC, Drack AV
Dis Model Mech 2022 Sep 1;15(9) Epub 2022 Sep 20 doi: 10.1242/dmm.049473. PMID: 36125046Free PMC Article
Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins.
Gupta N, D'Acierno M, Zona E, Capasso G, Zacchia M
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):9-19. Epub 2022 Apr 4 doi: 10.1002/ajmg.c.31970. PMID: 35373910Free PMC Article
Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.
Kurata K, Hosono K, Hikoya A, Kato A, Saitsu H, Minoshima S, Ogata T, Hotta Y
Jpn J Ophthalmol 2018 Jul;62(4):458-466. Epub 2018 Apr 17 doi: 10.1007/s10384-018-0591-8. PMID: 29666954

Diagnosis

Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins.
Gupta N, D'Acierno M, Zona E, Capasso G, Zacchia M
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):9-19. Epub 2022 Apr 4 doi: 10.1002/ajmg.c.31970. PMID: 35373910Free PMC Article
Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.
Kurata K, Hosono K, Hikoya A, Kato A, Saitsu H, Minoshima S, Ogata T, Hotta Y
Jpn J Ophthalmol 2018 Jul;62(4):458-466. Epub 2018 Apr 17 doi: 10.1007/s10384-018-0591-8. PMID: 29666954
Pentapeptide sharing between Corynebacterium diphtheria toxin and the human neural protein network.
Bavaro SL, Calabrò M, Kanduc D
Immunopharmacol Immunotoxicol 2011 Jun;33(2):360-72. Epub 2010 Sep 29 doi: 10.3109/08923973.2010.518618. PMID: 20874613

Prognosis

Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins.
Gupta N, D'Acierno M, Zona E, Capasso G, Zacchia M
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):9-19. Epub 2022 Apr 4 doi: 10.1002/ajmg.c.31970. PMID: 35373910Free PMC Article

Clinical prediction guides

Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins.
Gupta N, D'Acierno M, Zona E, Capasso G, Zacchia M
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):9-19. Epub 2022 Apr 4 doi: 10.1002/ajmg.c.31970. PMID: 35373910Free PMC Article
Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.
Kurata K, Hosono K, Hikoya A, Kato A, Saitsu H, Minoshima S, Ogata T, Hotta Y
Jpn J Ophthalmol 2018 Jul;62(4):458-466. Epub 2018 Apr 17 doi: 10.1007/s10384-018-0591-8. PMID: 29666954

Supplemental Content

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    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
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      Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries
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