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Nonsyndromic 35 delG Mutation of the Connexin 26 Gene Associated With Deafness in Syndromic Children: Two Case Reports
Author(s) -
Venail Frédéric,
Roux AnneFrançoise,
PallaresRuiz Nathalie,
Claustres Mireille,
Blanchet Patricia,
Gardiner Quentin,
Mondain Michel
Publication year - 2004
Publication title -
the laryngoscope
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.181
H-Index - 148
eISSN - 1531-4995
pISSN - 0023-852X
DOI - 10.1097/00005537-200403000-00033
Subject(s) - medicine , connexin , genetic counseling , hearing loss , mutation , genetics , sensorineural hearing loss , sensorineural deafness , genetic testing , pediatrics , gene , audiology , biology , intracellular , gap junction
Objectives/Hypothesis Several genetic diseases, such as velocardiofacial syndrome Del(22q11) and Down syndrome, are associated with hearing impairment. Study Design Case reports. Methods The authors reported two cases of hearing‐impaired children, one with Del (22q11) and one with Down syndrome, both with bilateral nonevolutive profound sensorineural deafness. Because of unusual features of their deafness and familial history, genetic evaluation was proposed. A homozygous 35delG mutation on the Connexin 26 gene was found in both children (DFNB1 phenotype). Results A review of the reported otological features of Del (22q11) and Down syndrome showed that sensorineural deafness is rare and seldom profound. The authors found no evidence for a genetic link between Del(22q11) or Down syndrome and 35delG mutation on the Connexin 26 gene. Conclusion The case reports reveal a coincidental association between DFNB1 and a multiple congenital anomaly syndrome. The clinician must be aware of this type of association to manage genetic counseling, appropriate otological care, and suitable treatment.