Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome-Reference-Cited by-同舟云学术

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

Published:2014-05-05 Issue:1 Volume:9 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Romani Marta,Micalizzi Alessia,Kraoua Ichraf,Dotti Maria Teresa,Cavallin Mara,Sztriha László,Ruta Rosario,Mancini Francesca,Mazza Tommaso,Castellana Stefano,Hanene Benrhouma,Carluccio Maria Alessandra,Darra Francesca,Máté Adrienn,Zimmermann Alíz,Gouider-Khouja Neziha,Valente Enza Maria

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

https://link.springer.com/content/pdf/10.1186/1750-1172-9-72.pdf

Reference16 articles.

1. Brancati F, Dallapiccola B, Valente EM: Joubert syndrome and related disorders. Orphanet J Rare Dis. 2010, 5: 20-10.1186/1750-1172-5-20.

2. Salonen R: The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet. 1984, 18: 671-689. 10.1002/ajmg.1320180414.

3. Kyttala M, Tallila J, Salonen R, Kopra O, Kohlschmidt N, Paavola-Sakki P, Peltonen L, Kestila M: MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat Genet. 2006, 38: 155-157. 10.1038/ng1714.

4. Khaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, Ozilou C, Cullinane A, Kyttala M, Shalev S, Audollent S, d'Humières C, Kadhom N, Esculpavit C, Viot G, Boone C, Oien C, Encha-Razavi F, Batman PA, Bennett CP, Woods CG, Roume J, Lyonnet S, Génin E, Le Merrer M, Munnich A, Gubler MC, Cox P, Macdonald F, Vekemans M,et al, et al: Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Hum Mutat. 2007, 28: 523-524.

5. Auber B, Burfeind P, Herold S, Schoner K, Simson G, Rauskolb R, Rehder H: A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome. Clin Genet. 2007, 72: 454-459. 10.1111/j.1399-0004.2007.00880.x.

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