Audiological findings, genotype and clinical severity score in Cornelia de Lange syndrome

International Journal of Pediatric Otorhinolaryngology

Volumn 78, Issue 7, 2014, Pages 1045-1048

  Marchisio, Paola ^a   Selicorni, Angelo ^b   Bianchini, Sonia ^a   Milani, Donatella ^a   Baggi, Elena ^a   Cerutti, Marta ^a   Larizza, Lidia ^a   Principi, Nicola ^a   Esposito, Susanna ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b SAN GERARDO HOSPITAL   (Italy)

Author keywords

Audiology; Conductive hearing loss; Cornelia de lange syndrome; Otitis media with effusion; Sensorineural hearing loss

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUDIOLOGY; CHILD; CLINICAL ARTICLE; CONDUCTION DEAFNESS; CONTROLLED STUDY; DE LANGE SYNDROME; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE SEVERITY; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NIPBL GENE; OTORHINOLARYNGOLOGY; PATHOGENESIS; PERCEPTION DEAFNESS; PHENOTYPE; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD; SMC1 GENE; FEMALE; GENETICS; HEARING LOSS, BILATERAL; HEARING LOSS, CONDUCTIVE; HEARING LOSS, SENSORINEURAL; INFANT; MALE; MUTATION; OTITIS MEDIA WITH EFFUSION; SEVERITY OF ILLNESS INDEX;

NIPBL PROTEIN, HUMAN; PROTEIN;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DE LANGE SYNDROME; FEMALE; GENOTYPE; HEARING LOSS, BILATERAL; HEARING LOSS, CONDUCTIVE; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; MALE; MUTATION; OTITIS MEDIA WITH EFFUSION; PHENOTYPE; PROTEINS; SEVERITY OF ILLNESS INDEX;

EID: 84902081281     PISSN: 01655876     EISSN: 18728464     Source Type: Journal    
DOI: 10.1016/j.ijporl.2014.03.038     Document Type: Article

References (26)

1. Kline A.D., Krantz I.D., Sommer A.M., Kliewer M., Jackson L.G., FitzPatrick D.R., et al. Cornelia de Lange syndrome: clinical review, diagnostic and scoring system, and anticipatory guidance. Am. J. Med. Genet. A 2007, 143A:1287-1296.
2. Kline A.D., Barr M., Jackson L.G. Growth manifestations in the Brachmann-de Lange syndrome. Am. J. Med. Genet. 1993, 47:1042-1049.
3. Luzzani S., Macchini F., Valadè A., Milani D., Selicorni A. Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical symptoms. Am. J. Med. Genet. A 2003, 119:283-287.
4. Jackson L.J., Kline A.D., Barr M.A., Kock S. De Lange syndrome: a clinical review of 310 individuals. Am. J. Med. Genet. 1993, 47:940-946.
5. Selicorni A., Sforzini C., Milani D., Cagnoli G., Fossali E., Bianchetti M.G. Anomalies of the kidney and urinary tract are common in de Lange syndrome. Am. J. Med. Genet. A 2005, 132:395-397.
6. Kline A.D., Grados M., Sponseller P., Levy H.P., Blagowidow N., Shoedel C., et al. Natural history of aging in Cornelia de Lange syndrome. Am. J. Med. Genet. C 2007, 145C:248-260.
7. Levin A.V., Seidman D.J., Nelson L.B., Jackson L.G. Ophthalmologic findings in the Cornelia de Lange syndrome. J. Pediatr. Ophthalmol. Strabismus 1990, 27:94-102.
8. Yamaguchi K., Ishitobi F. Brain dysgenesis in Cornelia de Lange syndrome. Clin. Neuropathol. 1999, 18:99-105.
9. Goodban M.T. Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome. Am. J. Med. Genet. 1993, 47:1059-1063.
10. Marchisio P., Selicorni A., Pignataro L., Milani D., Baggi E., Lambertini L., et al. Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome. Am. J. Med. Genet. A 2008, 146A:426-432.
11. Skibbens R.V., Colquhoun J.M., Green M.J., Molnar C.A., Sin D.N., Sullivan B.J., et al. Cohesinopathies of a feather flock together. PLoS Genet. 2013, 9:e1004036.
12. Selicorni A., Russo S., Gervasini C., Castronovo P., Milani D., Cavalleri F., et al. Clinical score of 62 Italian patients with Cornelia de Lange syndome and correlations with the presence and type of NIPBL mutation. Clin. Genet. 2007, 71:1-11.
13. Krantz I.D., McCallum J., DeScipio C., Kaur M., Gillis L.A., Yaeger D., et al. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster nipped B. Nat. Genet. 2004, 36:631-635.
14. Tonkin E.T., Wang T.J., Lisgo S., Bamshad M.J., Strachan T. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped B, is mutated in Cornelia de Lange syndrome. Nat. Genet. 2004, 36:636-641.
15. Borck G., Redon R., Rio M., Prieur M., Lyonnet S., Vekemans M., et al. NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome. J. Med. Genet. 2004, 41:e128.
16. Deardorff MAKaur M., Yaeger D., Rampuria A., Korolev S., Pie J., et al. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation. Am. J. Hum. Genet. 2007, 80:485-494.
17. Deardorff M.A., Bando M., Nakato R., Watrin E., Itoh T., Minamino M., et al. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature 2012, 489:313-317.
18. Deardorff M.A., Wilde J.J., Albrecht M., Dickinson E., Tennstedt S., Braunholz D., et al. RAD21 mutations cause a human cohesinopathy. Am. J. Hum. Genet. 2012, 90:1014-1027.
19. Rosenfeld R.M., Culpepper L., Doyle K.J., Grundfast K.M., Hoberman A., Kenna M.A., et al. American Academy of Pediatrics Subcommittee on Otitis Media with Effusion; American Academy of Family Physicians; American Academy of Otolaryngology - Head and Neck Surgery. Otolaryngol. Head Neck Surg. 2004, 130(5 Suppl.):S95-S118.
20. Sataloff R.T., Spiegel J.R., Hawkshaw M., Epstein J.M., Jackson L. Cornelia de Lange syndrome. Otolaryngologic manifestations. Arch. Otolaryngol. Head Neck Surg. 1990, 116:1044-1046.
21. Marchisio P., Principi N., Passali D., Salpietro D.C., Boschi G., Chetri G., et al. Epidemiology and treatment of otitis media with effusion in children in the first year of primary school. Acta Otolaryngol. 1998, 118:557-562.
22. Keles E., Kaygusuz I., Karlidag T., Yalcin S., Acik Y., Alpay H.C., et al. Prevalence of otitis media with effusion in first and second grade primary school students and its correlation with BCG vaccination. Int. J. Pediatr. Otorhinolaryngol. 2004, 68:1069-1074.
23. Kim J., Kim E.Y., Lee J.S., Lee W.S., Kim H.N., Temporal Bone C.T. Findings in Cornelia de Lange Syndrome. Am. J. Neuroradiol. 2008, 29:569-573.
24. Bhuiyan Z.A., Klein M., Hammond P., Van Haeringer A., Mannens M.M., Van Berckelaer-Onnes I., et al. Genotype-phenotype correlations of 39 patients with Cornelia de Lange syndrome: the Dutch experience. J. Med. Genet. 2006, 43:568-575.
25. Kuzniacka A., Wierzba J., Ratajska M., Lipska B.S., Koczkowska M., Malinowska M., et al. Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome. J. Appl. Genet. 2013, 54:27-33.
26. Gillis L.A., McCallum J., Kaur M., DeScipio C., Yaeger D., Mariani A., et al. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am. J. Hum. Genet. 2004, 75:610-623.