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Bardet-Biedl syndrome 13(BBS13)

MedGen UID:
393032
Concept ID:
C2673873
Disease or Syndrome
Synonym: BBS13
 
Gene (location): MKS1 (17q22)
 
Monarch Initiative: MONDO:0014441
OMIM®: 615990

Definition

BBS13 is an autosomal recessive ciliopathy with features of obesity, polydactyly, and retinitis pigmentosa (Leitch et al., 2008; Xing et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). [from OMIM]

Clinical features

From HPO
Polydactyly
MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Accumulation of substantial excess body fat.
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.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Bone spicule pigmentation of the retina
MedGen UID:
323029
Concept ID:
C1836926
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
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.

Professional guidelines

PubMed

Tang X, Liu C, Liu X, Chen J, Fan X, Liu J, Ma D, Cao G, Chen Z, Xu D, Zhu Y, Jiang X, Cheng L, Wu Y, Hou L, Li Y, Shao X, Zheng S, Zhang A, Zheng B, Jian S, Rong Z, Su Q, Gao X, Rao J, Shen Q, Xu H; Chinese Children Genetic Kidney Disease Database (CCGKDD); “Internet Plus” Nephrology Alliance of the National Center for Children’s Care
J Med Genet 2022 Feb;59(2):147-154. Epub 2020 Dec 15 doi: 10.1136/jmedgenet-2020-107184. PMID: 33323469
Jiman OA, Taylor RL, Lenassi E, Smith JC, Douzgou S, Ellingford JM, Barton S, Hardcastle C, Fletcher T, Campbell C, Ashworth J, Biswas S, Ramsden SC; UK Inherited Retinal Disease Consortium, Manson FD, Black GC
Eur J Hum Genet 2020 May;28(5):576-586. Epub 2019 Dec 13 doi: 10.1038/s41431-019-0548-5. PMID: 31836858Free PMC Article
Chen CP
Taiwan J Obstet Gynecol 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X. PMID: 17389183

Curated

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

Zmyslowska A, Smyczynska U, Stanczak M, Jeziorny K, Szadkowska A, Fendler W, Borowiec M
Front Endocrinol (Lausanne) 2022;13:1057056. Epub 2022 Nov 25 doi: 10.3389/fendo.2022.1057056. PMID: 36506055Free PMC Article
Pomeroy J, VanWormer JJ, Meilahn JR, Maki T, Murali HR, Haws RM
Orphanet J Rare Dis 2021 Jun 14;16(1):276. doi: 10.1186/s13023-021-01911-4. PMID: 34127036Free PMC Article
Mujahid S, Hunt KF, Cheah YS, Forsythe E, Hazlehurst JM, Sparks K, Mohammed S, Tomlinson JW, Amiel SA, Carroll PV, Beales PL, Huda MSB, McGowan BM
J Clin Endocrinol Metab 2018 May 1;103(5):1834-1841. doi: 10.1210/jc.2017-01459. PMID: 29409041
Mariman EC, Vink RG, Roumans NJ, Bouwman FG, Stumpel CT, Aller EE, van Baak MA, Wang P
Br J Nutr 2016 Aug;116(4):576-92. Epub 2016 Jun 20 doi: 10.1017/S0007114516002282. PMID: 27323230
Katsanis N
Hum Mol Genet 2004 Apr 1;13 Spec No 1:R65-71. Epub 2004 Feb 19 doi: 10.1093/hmg/ddh092. PMID: 14976158

Diagnosis

Nasser F, Kohl S, Kurtenbach A, Kempf M, Biskup S, Zuleger T, Haack TB, Weisschuh N, Stingl K, Zrenner E
Genes (Basel) 2022 Jul 8;13(7) doi: 10.3390/genes13071218. PMID: 35886001Free 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
Mujahid S, Hunt KF, Cheah YS, Forsythe E, Hazlehurst JM, Sparks K, Mohammed S, Tomlinson JW, Amiel SA, Carroll PV, Beales PL, Huda MSB, McGowan BM
J Clin Endocrinol Metab 2018 May 1;103(5):1834-1841. doi: 10.1210/jc.2017-01459. PMID: 29409041
Chen CP
Taiwan J Obstet Gynecol 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X. PMID: 17389183

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
Zmyslowska A, Smyczynska U, Stanczak M, Jeziorny K, Szadkowska A, Fendler W, Borowiec M
Front Endocrinol (Lausanne) 2022;13:1057056. Epub 2022 Nov 25 doi: 10.3389/fendo.2022.1057056. PMID: 36506055Free PMC Article
Best S, Yu J, Lord J, Roche M, Watson CM, Bevers RPJ, Stuckey A, Madhusudhan S, Jewell R, Sisodiya SM, Lin S, Turner S, Robinson H, Leslie JS, Baple E; Genomics England Research Consortium, Toomes C, Inglehearn C, Wheway G, Johnson CA
J Med Genet 2022 Dec;59(12):1151-1164. Epub 2022 Jun 28 doi: 10.1136/jmedgenet-2022-108476. PMID: 35764379Free PMC Article
Rohatgi R
Front Biosci 2008 May 1;13:4175-97. doi: 10.2741/2999. PMID: 18508505
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

Zmyslowska A, Smyczynska U, Stanczak M, Jeziorny K, Szadkowska A, Fendler W, Borowiec M
Front Endocrinol (Lausanne) 2022;13:1057056. Epub 2022 Nov 25 doi: 10.3389/fendo.2022.1057056. PMID: 36506055Free PMC Article
Zhou Z, Katoh Y, Nakayama K
Mol Biol Cell 2022 Nov 1;33(13):ar126. Epub 2022 Sep 8 doi: 10.1091/mbc.E22-05-0161. PMID: 36074075Free PMC Article
Nasser F, Kohl S, Kurtenbach A, Kempf M, Biskup S, Zuleger T, Haack TB, Weisschuh N, Stingl K, Zrenner E
Genes (Basel) 2022 Jul 8;13(7) doi: 10.3390/genes13071218. PMID: 35886001Free PMC Article
Pomeroy J, VanWormer JJ, Meilahn JR, Maki T, Murali HR, Haws RM
Orphanet J Rare Dis 2021 Jun 14;16(1):276. doi: 10.1186/s13023-021-01911-4. PMID: 34127036Free PMC Article
Mariman EC, Vink RG, Roumans NJ, Bouwman FG, Stumpel CT, Aller EE, van Baak MA, Wang P
Br J Nutr 2016 Aug;116(4):576-92. Epub 2016 Jun 20 doi: 10.1017/S0007114516002282. PMID: 27323230

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