OBJECTIVE: To determine whether congenital cytomegalovirus (CMV) infection is an etiologic factor in the pathogenesis of enlarged vestibular aqueducts (EVA). DESIGN: Two different cohort studies. Subjects The study population comprised 19 subjects with a history of congenital CMV infection and sensorineural hearing loss (cohort 1); 39 subjects with nonsyndromic EVA and their unaffected mothers (cohort 2); and 16 control subjects with EVA associated with Pendred syndrome and bi-allelic mutations of the SLC26A4 gene and their unaffected mothers. RESULTS: In cohort 1, we detected EVA in 0 of 19 subjects with congenital CMV infection and sensorineural hearing loss. In cohort 2, anti-CMV serologic profiles were consistent with possible congenital CMV infection in 10 (26%) of 39 subjects with nonsyndromic EVA and 6 (38%) of 16 control subjects with Pendred syndrome (P = .52). These seroprevalence rates are similar to those expected in the general population (40%). CONCLUSION: In spite of their auditory phenotypic similarities, congenital CMV infection is not a significant factor in the etiology of EVA.
OBJECTIVE: To determine whether congenital cytomegalovirus (CMV) infection is an etiologic factor in the pathogenesis of enlarged vestibular aqueducts (EVA). DESIGN: Two different cohort studies. Subjects The study population comprised 19 subjects with a history of congenital CMV infection and sensorineural hearing loss (cohort 1); 39 subjects with nonsyndromic EVA and their unaffected mothers (cohort 2); and 16 control subjects with EVA associated with Pendred syndrome and bi-allelic mutations of the SLC26A4 gene and their unaffected mothers. RESULTS: In cohort 1, we detected EVA in 0 of 19 subjects with congenital CMV infection and sensorineural hearing loss. In cohort 2, anti-CMV serologic profiles were consistent with possible congenital CMV infection in 10 (26%) of 39 subjects with nonsyndromic EVA and 6 (38%) of 16 control subjects with Pendred syndrome (P = .52). These seroprevalence rates are similar to those expected in the general population (40%). CONCLUSION: In spite of their auditory phenotypic similarities, congenital CMV infection is not a significant factor in the etiology of EVA.
Authors: Julie A Muskett; Parna Chattaraj; John F Heneghan; Fabian R Reimold; Boris E Shmukler; Carmen C Brewer; Kelly A King; Christopher K Zalewski; Thomas H Shawker; John A Butman; Margaret A Kenna; Wade W Chien; Seth L Alper; Andrew J Griffith Journal: Laryngoscope Date: 2015-10-20 Impact factor: 3.325
Authors: Parna Chattaraj; Tina Munjal; Keiji Honda; Nanna D Rendtorff; Jessica S Ratay; Julie A Muskett; Davide S Risso; Isabelle Roux; E Michael Gertz; Alejandro A Schäffer; Thomas B Friedman; Robert J Morell; Lisbeth Tranebjærg; Andrew J Griffith Journal: J Med Genet Date: 2017-08-05 Impact factor: 6.318
Authors: Taku Ito; Byung Yoon Choi; Kelly A King; Christopher K Zalewski; Julie Muskett; Parna Chattaraj; Thomas Shawker; James C Reynolds; John A Butman; Carmen C Brewer; Philine Wangemann; Seth L Alper; Andrew J Griffith Journal: Cell Physiol Biochem Date: 2011-11-18
Authors: Taku Ito; Julie Muskett; Parna Chattaraj; Byung Yoon Choi; Kyu Yup Lee; Christopher K Zalewski; Kelly A King; Xiangming Li; Philine Wangemann; Thomas Shawker; Carmen C Brewer; Seth L Alper; Andrew J Griffith Journal: World J Otorhinolaryngol Date: 2013-05-28
Authors: B Y Choi; A C Madeo; K A King; C K Zalewski; S P Pryor; J A Muskett; W E Nance; J A Butman; C C Brewer; A J Griffith Journal: J Med Genet Date: 2009-07-02 Impact factor: 6.318
Authors: Byung Yoon Choi; Andrew K Stewart; Anne C Madeo; Shannon P Pryor; Suzanne Lenhard; Rick Kittles; David Eisenman; H Jeffrey Kim; John Niparko; James Thomsen; Kathleen S Arnos; Walter E Nance; Kelly A King; Christopher K Zalewski; Carmen C Brewer; Thomas Shawker; James C Reynolds; John A Butman; Lawrence P Karniski; Seth L Alper; Andrew J Griffith Journal: Hum Mutat Date: 2009-04 Impact factor: 4.878