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Bardet-Biedl syndrome 15(BBS15)

MedGen UID:
461477
Concept ID:
C3150127
Disease or Syndrome
Synonym: BBS15
 
Gene (location): WDPCP (2p15)
 
Monarch Initiative: MONDO:0014443
OMIM®: 615992

Definition

BBS15 is a form of BBS caused by mutation in the WDPCP gene, a planar cell polarity gene (Kim et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). [from OMIM]

Professional guidelines

PubMed

Shamseldin HE, Al Mogarri I, Alqwaiee MM, Alharbi AS, Baqais K, AlSaadi M, AlAnzi T, Alhashem A, Saghier A, Ameen W, Ibrahim N, Yang J, Abdulwahab F, Hashem M, Chivukula RR, Alkuraya FS
Hum Genet 2020 Oct;139(10):1273-1283. Epub 2020 May 4 doi: 10.1007/s00439-020-02170-2. PMID: 32367404
Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millán JM, Munier FL, Kennedy D, Jacobson SG, Innes AM, Mitchell GA, Boycott K, Héon E
Hum Mutat 2011 Jun;32(6):610-9. Epub 2011 Mar 22 doi: 10.1002/humu.21480. PMID: 21344540

Recent clinical studies

Etiology

Cai M, Guo C, Wang X, Lin M, Xu S, Huang H, Lin N, Xu L
Exp Biol Med (Maywood) 2023 May;248(10):858-865. Epub 2023 May 19 doi: 10.1177/15353702231164933. PMID: 37208928Free PMC Article
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Parameswarappa DC, Das AV, Thakur PS, Takkar B, Multani PK, Padhy SK, Doctor MB, Agarwal K, Jalali S
Indian J Ophthalmol 2022 Jul;70(7):2533-2538. doi: 10.4103/ijo.IJO_2268_21. PMID: 35791150Free PMC Article
Meyer JR, Krentz AD, Berg RL, Richardson JG, Pomeroy J, Hebbring SJ, Haws RM
Clin Genet 2022 Apr;101(4):429-441. doi: 10.1111/cge.14119. PMID: 35112343Free PMC Article
Sherafat-Kazemzadeh R, Ivey L, Kahn SR, Sapp JC, Hicks MD, Kim RC, Krause AJ, Shomaker LB, Biesecker LG, Han JC, Yanovski JA
Pediatr Obes 2013 Oct;8(5):e64-7. Epub 2013 Jun 18 doi: 10.1111/j.2047-6310.2013.00182.x. PMID: 23776152Free PMC Article

Diagnosis

Satariano M, Ghose S, Raina R
Genes (Basel) 2024 Jan 11;15(1) doi: 10.3390/genes15010091. PMID: 38254980Free PMC Article
Cai M, Guo C, Wang X, Lin M, Xu S, Huang H, Lin N, Xu L
Exp Biol Med (Maywood) 2023 May;248(10):858-865. Epub 2023 May 19 doi: 10.1177/15353702231164933. PMID: 37208928Free PMC Article
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Diñeiro M, Capín R, Cifuentes GÁ, Fernández-Vega B, Villota E, Otero A, Santiago A, Pruneda PC, Castillo D, Viejo-Díaz M, Hernando I, Durán NS, Álvarez R, Lago CG, Ordóñez GR, Fernández-Vega Á, Cabanillas R, Cadiñanos J
Acta Ophthalmol 2020 Dec;98(8):e1034-e1048. Epub 2020 Jun 1 doi: 10.1111/aos.14479. PMID: 32483926Free PMC Article
Dan H, Huang X, Xing Y, Shen Y
Mol Genet Genomic Med 2020 Mar;8(3):e1131. Epub 2020 Jan 20 doi: 10.1002/mgg3.1131. PMID: 31960602Free PMC Article

Therapy

Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Haws R, Brady S, Davis E, Fletty K, Yuan G, Gordon G, Stewart M, Yanovski J
Diabetes Obes Metab 2020 Nov;22(11):2133-2140. Epub 2020 Jul 22 doi: 10.1111/dom.14133. PMID: 32627316Free PMC Article
Ates U, Ergun E, Gollu G, Sozduyar S, Can OS, Yagmurlu A
Pediatr Int 2018 May;60(5):461-466. doi: 10.1111/ped.13545. PMID: 29500869
Ghadami M, Tomita HA, Najafi MT, Damavandi E, Farahvash MS, Yamada K, Majidzadeh-A K, Niikawa N
Am J Med Genet 2000 Oct 23;94(5):433-7. doi: 10.1002/1096-8628(20001023)94:5<433::aid-ajmg17>3.0.co;2-x. PMID: 11050632

Prognosis

Cai M, Guo C, Wang X, Lin M, Xu S, Huang H, Lin N, Xu L
Exp Biol Med (Maywood) 2023 May;248(10):858-865. Epub 2023 May 19 doi: 10.1177/15353702231164933. PMID: 37208928Free PMC Article
Álvarez-Satta M, Castro-Sánchez S, Pousada G, Valverde D
J Cell Mol Med 2017 Oct;21(10):2268-2275. Epub 2017 May 13 doi: 10.1111/jcmm.13147. PMID: 28502102Free PMC Article
Walley AJ, Blakemore AI, Froguel P
Hum Mol Genet 2006 Oct 15;15 Spec No 2:R124-30. doi: 10.1093/hmg/ddl215. PMID: 16987875
Parfrey PS, Davidson WS, Green JS
Kidney Int 2002 Jun;61(6):1925-34. doi: 10.1046/j.1523-1755.2002.00305.x. PMID: 12028433
Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E, Musarella MA, Parfrey PS, Sheffield VC, Biesecker LG
Nat Genet 2000 Sep;26(1):15-6. doi: 10.1038/79116. PMID: 10973238

Clinical prediction guides

Parameswarappa DC, Das AV, Thakur PS, Takkar B, Multani PK, Padhy SK, Doctor MB, Agarwal K, Jalali S
Indian J Ophthalmol 2022 Jul;70(7):2533-2538. doi: 10.4103/ijo.IJO_2268_21. PMID: 35791150Free PMC Article
Haws R, Brady S, Davis E, Fletty K, Yuan G, Gordon G, Stewart M, Yanovski J
Diabetes Obes Metab 2020 Nov;22(11):2133-2140. Epub 2020 Jul 22 doi: 10.1111/dom.14133. PMID: 32627316Free PMC Article
Fieggen K, Milligan C, Henderson B, Esterhuizen AI
S Afr Med J 2016 May 25;106(6 Suppl 1):S72-4. doi: 10.7196/SAMJ.2016.v106i6.11000. PMID: 27245532
Sherafat-Kazemzadeh R, Ivey L, Kahn SR, Sapp JC, Hicks MD, Kim RC, Krause AJ, Shomaker LB, Biesecker LG, Han JC, Yanovski JA
Pediatr Obes 2013 Oct;8(5):e64-7. Epub 2013 Jun 18 doi: 10.1111/j.2047-6310.2013.00182.x. PMID: 23776152Free PMC Article
Parfrey PS, Davidson WS, Green JS
Kidney Int 2002 Jun;61(6):1925-34. doi: 10.1046/j.1523-1755.2002.00305.x. PMID: 12028433

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