Advanced search
Publication Cover
Acta Oto-Laryngologica Volume 139, 2019 - Issue 10
Submit an article Journal homepage
304
Views
0
CrossRef citations to date
0
Altmetric
Audiology

Novel de novo interstitial deletion in 2q36.1q36.3 causes syndromic hearing loss and further delineation of the 2q36 deletion syndrome

Jing GuanDepartment of Otolaryngology-Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Medical School of Chinese PLA, Beijing, ChinaView further author information
,
Linwei YinDepartment of Otolaryngology-Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Medical School of Chinese PLA, Beijing, ChinaView further author information
,
Hongyang WangDepartment of Otolaryngology-Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Medical School of Chinese PLA, Beijing, ChinaView further author information
,
Guohui ChenDepartment of Otolaryngology-Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Medical School of Chinese PLA, Beijing, ChinaView further author information
,
Cui ZhaoDepartment of Otolaryngology-Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Medical School of Chinese PLA, Beijing, ChinaView further author information
,
Dayong WangDepartment of Otolaryngology-Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Medical School of Chinese PLA, Beijing, ChinaView further author information
&
Qiu-Ju WangDepartment of Otolaryngology-Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Medical School of Chinese PLA, Beijing, ChinaCorrespondence[email protected] [email protected]
View further author information
 show all
Pages 870-875 | Received 30 Nov 2018, Accepted 05 Mar 2019, Published online: 12 Aug 2019

References

  • Goumy C, Gay-Bellile M, Eymard-Pierre E, et al. De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate. Birth Defects Res A Clin Mol Teratol. 2014;100:507–511.
  • Doco-Fenzy M, Landais E, Andrieux J, et al. Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation. Eur J Med Genet. 2008;51:598–607.
  • Freitas EL, Gribble SM, Simioni M, et al. A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state. Eur J Med Genet.2012;55:660–665.
  • Young RS, Shapiro SD, Hansen KL, et al. Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36). J Med Genet. 1983;20:199–202.
  • Matsunaga T, Mutai H, Namba K, et al. Genetic analysis of PAX3 for diagnosis of Waardenburg syndrome type I. Acta Otolaryngol. 2013;133:345–351.
  • Melnyk AR, Muraskas J. Interstitial deletion of chromosome 2 region in a malformed infant. Am J Med Genet. 1993;45:49–51.
  • ACMG. Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss. Genetic evaluation of Congenital Hearing Loss Expert Panel. ACMG statement. Genet Med. 2002;4:162–171.
  • Friedman TB, Schultz JM, Ben-Yosef T, et al. Recent advances in the understanding of syndromic forms of hearing loss. Ear Hear. 2003;24:289–302.
  • Tassabehji M, Newton VE, Leverton K, et al. PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse. Hum Mol Genet. 1994;3:1069–1074.
  • Drozniewska M, Haus O. PAX3 gene deletion detected by microarray analysis in a girl with hearing loss. Mol Cytogenet. 2014;7:30.
  • Li C, Chen R, Fan X, et al. EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome. BMC Med Genet. 2015;16:23.
  • Song J, Feng Y, Acke FR, et al. Hearing loss in Waardenburg syndrome: a systematic review. Clin Genet. 2015;89:416–425.
  • Gad A, Laurino M, Maravilla KR, et al. Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome? Am J Med Genet A. 2008;146A:1880–1885.
  • Gravholt CH, Andersen NH, Conway GS, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017;177:G1–G70.
  • Temtamy SA, Aglan MS. Brachydactyly. Orphanet J Rare Dis. 2008;3:15.
  • Pereda A, Garin I, Garcia-Barcina M, et al. Brachydactyly E: isolated or as a feature of a syndrome. Orphanet J Rare Dis. 2013;8:141.
  • Thomas-Teinturier C, Pereda A, Garin I, et al. Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review. Am J Med Genet. 2016;170:734–742.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.