12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4

European Journal of Medical Genetics

Volumn 56, Issue 10, 2013, Pages 580-583

  Molin, Arnaud ^a   Benoist, Guillaume ^a   Jeanne Pasquier, Corinne ^a   Elkartoufi, Nadia ^b   Litzer, Julie ^b   Decamp, Matthieu ^a   Gruchy, Nicolas ^a   Durand Malbruny, Marion ^a   Begorre, Marianne ^a   Attie Bitach, Tania ^b,c,d   Leporrier, Nathalie ^a  

^a CAEN UNIVERSITY HOSPITAL   (France)

^b HÔpital Necker Enfants Malades   (France)

^c IMAGINE INSTITUTE   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

CEP290; Ciliopathy; Gene deletion; Meckel syndrome

Indexed keywords

ADULT; ALLELE; ARTICLE; CEP290 GENE; CEREBELLUM VERMIS; CHROMOSOME 12Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; ECHOGRAPHY; ENCEPHALOMENINGOCELE; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE LOCUS; HEMIZYGOSITY; HOMOZYGOSITY; HUMAN; KIDNEY CYST; LOSS OF FUNCTION MUTATION; MALE; MECKEL SYNDROME; NEUROPATHOLOGY; NONSENSE MUTATION; PHENOTYPE; POINT MUTATION; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS;

CEP290; CILIOPATHY; GENE DELETION; MECKEL SYNDROME;

ABORTED FETUS; ABORTION, SPONTANEOUS; ANTIGENS, NEOPLASM; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; CILIARY MOTILITY DISORDERS; DNA MUTATIONAL ANALYSIS; ENCEPHALOCELE; FATAL OUTCOME; FEMALE; HUMANS; KIDNEY; NEOPLASM PROTEINS; POLYCYSTIC KIDNEY DISEASES; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE DELETION;

EID: 84885371854     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.08.002     Document Type: Article

References (9)

1. Salonen R., Norio R. The Meckel syndrome in Finland: epidemiologic and genetic aspects. Am. J. Med. Genet. 1984, 18:691-698.
2. Kyttälä M., Tallila J., Salonen R., Kopra O., Kohlschmidt N., Paavola-Sakki P., Peltonen L., Kestilä M. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat. Genet. 2006, 38:155-157.
3. Khaddour R., Smith U., Baala L., Martinovic J., Clavering D., Shaffiq R., Ozilou C., Cullinane A., Kyttälä M., Shalev S., Audollent S., d'Humières C., et al. Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Hum. Mutat. 2007, 28(5):523-524.
4. Iannicelli M., Brancati F., Mougou-Zerelli S., Mazzotta A., Thomas S., Elkhartoufi N., Travaglini L., Gomes C., Ardissino G.L., Bertini E., Boltshauser E., Castorina P., et al. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Hum. Mutat. 2010, 31(5):1319-1331.
5. Baala L., Audollent S., Martinovic J., Ozilou C., Babron M.C., Sivanandamoorthy S., Saunier S., Salomon R., Gonzales M., Rattenberry E., Esculpavit C., Toutain A., et al. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am. J. Med. Hum. Genet. 2007 July, 81:170-179.
6. Mougou-Zerelli S., Thomas S., Szenker E., Audollent S., Elkhartoufi N., Babarit C., Romano S., Salomon R., Amiel J., Esculpavit C., Gonzales M., Escudier E., et al. CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Hum. Mutat. 2009, 30(11):1574-1582.
7. Brancati F., Barrano G., Silhavy J.L., Marsh S.E., Travaglini L., Bielas S.L., Amorini M., Zablocka D., Kayserili H., Al-Gazali L., Bertini E., Boltshauser E., et al. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am. J. Hum. Genet. 2007, 81:104-113.
8. Hopp K., Heyer C.M., Hommerding C.J., Henke S.A., Sundsbak J.L., Patel S., Patel P., Consugar M.B., Czarnecki P.G., Gliem T.J., Torres V.E., Rossetti S., et al. B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. Hum. Mol. Genet. 2011, 20(13):2524-2534.
9. Travaglini L., Brancati F., Attie-Bitach T., Audollent S., Bertini E., Kaplan J., Perrault I., Iannicelli M., Mancuso B., Rigoli L., Rozet J.M., Swistun D., et al. Expanding CEP290 mutational spectrum in ciliopathies. Am. J. Med. Genet. 2009 Oct, 149:2173-2180.