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Bardet-Biedl syndrome 14, modifier of

MedGen UID:
865640
•Concept ID:
C4017203
•
Finding
Synonym: BARDET-BIEDL SYNDROME 14, MODIFIER OF
 
OMIM®: 609884

Recent clinical studies

Etiology

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.
Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, Chiurazzi P, Lacombe D, Ouertani I, Petit F, Till M, Verloes A, Jost B, Chaabouni HB, Dollfus H, Mandel JL, Muller J
J Med Genet 2012 Aug;49(8):502-12. Epub 2012 Jul 7 doi: 10.1136/jmedgenet-2012-100875. PMID: 22773737Free PMC Article
In search of triallelism in Bardet-Biedl syndrome.
Abu-Safieh L, Al-Anazi S, Al-Abdi L, Hashem M, Alkuraya H, Alamr M, Sirelkhatim MO, Al-Hassnan Z, Alkuraya B, Mohamed JY, Al-Salem A, Alrashed M, Faqeih E, Softah A, Al-Hashem A, Wali S, Rahbeeni Z, Alsayed M, Khan AO, Al-Gazali L, Taschner PE, Al-Hazzaa S, Alkuraya FS
Eur J Hum Genet 2012 Apr;20(4):420-7. Epub 2012 Feb 22 doi: 10.1038/ejhg.2011.205. PMID: 22353939Free PMC Article
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.
Pereiro I, Hoskins BE, Marshall JD, Collin GB, Naggert JK, Piñeiro-Gallego T, Oitmaa E, Katsanis N, Valverde D, Beales PL
Eur J Hum Genet 2011 Apr;19(4):485-8. Epub 2010 Dec 15 doi: 10.1038/ejhg.2010.207. PMID: 21157496Free PMC Article

Diagnosis

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
Estrada-Cuzcano A, Koenekoop RK, Senechal A, De Baere EB, de Ravel T, Banfi S, Kohl S, Ayuso C, Sharon D, Hoyng CB, Hamel CP, Leroy BP, Ziviello C, Lopez I, Bazinet A, Wissinger B, Sliesoraityte I, Avila-Fernandez A, Littink KW, Vingolo EM, Signorini S, Banin E, Mizrahi-Meissonnier L, Zrenner E, Kellner U, Collin RW, den Hollander AI, Cremers FP, Klevering BJ
Arch Ophthalmol 2012 Nov;130(11):1425-32. doi: 10.1001/archophthalmol.2012.2434. PMID: 23143442
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.
Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, Chiurazzi P, Lacombe D, Ouertani I, Petit F, Till M, Verloes A, Jost B, Chaabouni HB, Dollfus H, Mandel JL, Muller J
J Med Genet 2012 Aug;49(8):502-12. Epub 2012 Jul 7 doi: 10.1136/jmedgenet-2012-100875. PMID: 22773737Free PMC Article
Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney.
Putoux A, Attie-Bitach T, Martinovic J, Gubler MC
Pediatr Nephrol 2012 Jan;27(1):7-15. Epub 2011 Jan 19 doi: 10.1007/s00467-010-1751-3. PMID: 21246219

Prognosis

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.
Rao AR, Nazir A, Imtiaz S, Paracha SA, Waryah YM, Ujjan ID, Anwar I, Iqbal A, Santoni FA, Shah I, Gul K, Baig HMA, Waryah AM, Antonarakis SE, Ansar M
Genes (Basel) 2023 Feb 3;14(2) doi: 10.3390/genes14020404. PMID: 36833331Free PMC Article
Atypical patterns of inheritance.
Gropman AL, Adams DR
Semin Pediatr Neurol 2007 Mar;14(1):34-45. doi: 10.1016/j.spen.2006.11.007. PMID: 17331882

Clinical prediction guides

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.
Rao AR, Nazir A, Imtiaz S, Paracha SA, Waryah YM, Ujjan ID, Anwar I, Iqbal A, Santoni FA, Shah I, Gul K, Baig HMA, Waryah AM, Antonarakis SE, Ansar M
Genes (Basel) 2023 Feb 3;14(2) doi: 10.3390/genes14020404. PMID: 36833331Free PMC Article
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
Estrada-Cuzcano A, Koenekoop RK, Senechal A, De Baere EB, de Ravel T, Banfi S, Kohl S, Ayuso C, Sharon D, Hoyng CB, Hamel CP, Leroy BP, Ziviello C, Lopez I, Bazinet A, Wissinger B, Sliesoraityte I, Avila-Fernandez A, Littink KW, Vingolo EM, Signorini S, Banin E, Mizrahi-Meissonnier L, Zrenner E, Kellner U, Collin RW, den Hollander AI, Cremers FP, Klevering BJ
Arch Ophthalmol 2012 Nov;130(11):1425-32. doi: 10.1001/archophthalmol.2012.2434. PMID: 23143442
In search of triallelism in Bardet-Biedl syndrome.
Abu-Safieh L, Al-Anazi S, Al-Abdi L, Hashem M, Alkuraya H, Alamr M, Sirelkhatim MO, Al-Hassnan Z, Alkuraya B, Mohamed JY, Al-Salem A, Alrashed M, Faqeih E, Softah A, Al-Hashem A, Wali S, Rahbeeni Z, Alsayed M, Khan AO, Al-Gazali L, Taschner PE, Al-Hazzaa S, Alkuraya FS
Eur J Hum Genet 2012 Apr;20(4):420-7. Epub 2012 Feb 22 doi: 10.1038/ejhg.2011.205. PMID: 22353939Free PMC Article
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.
Pereiro I, Hoskins BE, Marshall JD, Collin GB, Naggert JK, Piñeiro-Gallego T, Oitmaa E, Katsanis N, Valverde D, Beales PL
Eur J Hum Genet 2011 Apr;19(4):485-8. Epub 2010 Dec 15 doi: 10.1038/ejhg.2010.207. PMID: 21157496Free PMC Article
Atypical patterns of inheritance.
Gropman AL, Adams DR
Semin Pediatr Neurol 2007 Mar;14(1):34-45. doi: 10.1016/j.spen.2006.11.007. PMID: 17331882

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