External ear anomalies and hearing impairment in Noonan Syndrome

International Journal of Pediatric Otorhinolaryngology

Volumn 79, Issue 6, 2015, Pages 874-878

  van Trier, Dorothée C ^a   van Nierop, Josephine ^a   Draaisma, Jos M Th ^a   van der Burgt, Ineke ^a   Kunst, Henricus ^a   Croonen, Ellen A ^a   Admiraal, Ronald J C ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Dysmorphic ear anomalies; Genotype phenotype correlation; Hearing impairment; Noonan Syndrome

Indexed keywords

PROTEIN TYROSINE PHOSPHATASE SHP 2; RAF PROTEIN; SOS PROTEIN; A2ML1 PROTEIN, HUMAN; ALPHA 2 MACROGLOBULIN; KRAS PROTEIN, HUMAN; MAP2K2 PROTEIN, HUMAN; MITOGEN ACTIVATED PROTEIN KINASE KINASE 2; ONCOPROTEIN; PTPN11 PROTEIN, HUMAN; RAS PROTEIN; SHOC2 PROTEIN, HUMAN; SIGNAL PEPTIDE;

A2ML1 GENE; ADOLESCENT; ADULT; ARTICLE; CHILD; COCHLEA PROSTHESIS; COHORT ANALYSIS; CONDUCTION DEAFNESS; DISEASE SEVERITY; EXTERNAL EAR MALFORMATION; FEMALE; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEARING IMPAIRMENT; HUMAN; MAJOR CLINICAL STUDY; MALE; MAP2K2 GENE; MIXED HEARING LOSS; MUTATIONAL ANALYSIS; NOONAN SYNDROME; ONCOGENE K RAS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PTPN11 GENE; RAF1 GENE; RETROSPECTIVE STUDY; SECRETORY OTITIS MEDIA; SHOC2 GENE; SOS1 GENE; BILATERAL HEARING LOSS; COMPLICATION; CONGENITAL MALFORMATION; EXTERNAL EAR; GENETICS; HEARING LOSS, CONDUCTIVE; HEARING LOSS, SENSORINEURAL; INFANT; MIDDLE AGED; MUTATION; NEWBORN; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; ALPHA-MACROGLOBULINS; CHILD; CHILD, PRESCHOOL; EAR, EXTERNAL; FEMALE; HEARING LOSS, BILATERAL; HEARING LOSS, CONDUCTIVE; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; INFANT, NEWBORN; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MAP KINASE KINASE 2; MIDDLE AGED; MUTATION; NOONAN SYNDROME; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RAF; RAS PROTEINS; RETROSPECTIVE STUDIES; SOS1 PROTEIN; YOUNG ADULT;

EID: 84929050562     PISSN: 01655876     EISSN: 18728464     Source Type: Journal    
DOI: 10.1016/j.ijporl.2015.03.021     Document Type: Article

References (19)

1. Noonan J., Ehmke D. Associated noncardiac malformations in children with congenital heart disease. J. Pediatr. 1963, 63:468-470.
2. Romano A.A., Allanson J.E., Dahlgren J., Gelb B.D., Hall B., Pierpont M.E., et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics 2010, 126:746-759.
3. van der Burgt I., Berends E., Lommen E., van Beersum S., Hamel B., Mariman E. Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am. J. Med. Genet. 1994, 53:187-191.
4. Cremers C. Letter Hearing loss in Noonan syndrome. J. Pediatr. 1976, 88:363.
5. Cremers C.W.R.J., van der Burgt C.J.A.M. Hearing loss in Noonan syndrome. Int. J. Pediatr. Otorhinolaryngol. 1992, 23:81-84.
6. Sharland M., Burch M., McKenna W.M., Paton M.A. A clinical study of Noonan syndrome. Arch. Dis. Child. 1992, 67:178-183.
7. Qiu W.W., Yin S.S., Stucker F.J. Audiologic manifestations of Noonan syndrome. Otolaryngol. Head Neck Surg. 1998, 118:319-323.
8. Tartaglia M., Mehler E.L., Goldberg R., Zampino G., Brunner H.G., Kremer H., et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat. Genet. 2001, 29:465-468.
9. Carta C., Pantaleoni F., Bocchinfuso G., Stella L., Vasta L., Sarkozy A., et al. Germline missense mutations affecting KRAS isoform B are associated with a severe Noonan syndrome phenotype. Am. J. Hum. Genet. 2006, 79:129-135.
10. Tartaglia M., Pennacchio L.A., Zhao C., Yadav K.K., Fodale V., Sarkozy A., et al. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat. Genet. 2007, 39:75-79.
11. Niihori T., Aoki Y., Narumi Y., Neri G., Cavé H., Verloes A., et al. Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat. Genet. 2006, 38:294-296.
12. Razzaque M.A., Nishizawa T., Komoike Y., Yagi H., Furutani M., Amo R., et al. Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat. Genet. 2007, 39:1013-1017.
13. Cordeddu V., Di Schiavi E., Pennacchio L.A., Ma'ayan A., Sarkozy A., Fodale V., et al. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat. Genet. 2009, 41:1022-1026.
14. Lee N.B., Kelly L., Sharland M. Ocular manifestations of Noonan syndrome. Eye 1992, 6:328-334.
15. Foster C.A., Dyhrkopp P.J. Noonan's syndrome with sensorineural hearing loss and vestibular abnormalities. Otolaryngol. Head Neck Surg. 1998, 119:508-511.
16. Miura M., Sando I., Orita Y., Hirsch B.E. Temporal bone histopathological study of Noonan syndrome. Int. J. Pediatr. Otorhinolaryngol. 2001, 60:73-82.
17. Lee B.H., Kim J.M., Jin H.Y., Kim G.H., Choi J.H., Yoo H.W. Spectrum of mutations in Noonan Syndrome and their correlation with phenotypes. J. Pediatr. 2011, 159:1029-1035.
18. Scheiber C., Hirschfelder A., Grabel S., Peters H., Olze H. Bilateral cochlear implantation in children with Noonan syndrome. Int. J. Pediatr. Otorhinolaryngol. 2009, 73:889-894.
19. vd Burgt I. Noonan syndrome. Orphanet J. Rare Dis. 2007, 14:2-4.