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Targeted next-generation sequencing identifies a novel frameshift EYA1 variant causing branchio-otic syndrome in a Chinese family.
Xing, Zhan-Kui; Wang, Su-Yang; Xia, Xin; Ding, Wen-Juan; Duan, Lei; Cui, Xiao; Xu, Bai-Cheng; Zhu, Yi-Ming; Liu, Xiao-Wen.
Afiliación
  • Xing ZK; Department of Oral and Maxillofacial Surgery, Lanzhou University Second Hospital, Lanzhou, Gansu, 730030, PR China.
  • Wang SY; Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou, Gansu, 730030, PR China; Department of Otolaryngology-Head and Neck Surgery, Gansu Provincial Maternity and Child-care Hospital, Lanzhou, 730050, PR China.
  • Xia X; Department of Oral and Maxillofacial Surgery, Lanzhou University Second Hospital, Lanzhou, Gansu, 730030, PR China.
  • Ding WJ; Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou, Gansu, 730030, PR China.
  • Duan L; Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou, Gansu, 730030, PR China.
  • Cui X; Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou, Gansu, 730030, PR China.
  • Xu BC; Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou, Gansu, 730030, PR China.
  • Zhu YM; Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou, Gansu, 730030, PR China. Electronic address: entzym@126.com.
  • Liu XW; Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou, Gansu, 730030, PR China. Electronic address: lxw770012@126.com.
Int J Pediatr Otorhinolaryngol ; 138: 110202, 2020 Nov.
Article en En | MEDLINE | ID: mdl-32717629
OBJECTIVE: To evaluate the genotype-phenotype correlation of branchio-otic syndrome (BOS) in a Chinese family. METHODS: The proband in this study was an 18-month-old boy with hearing loss, preauricular pit, and branchial fistula without a renal anomaly. We collected blood samples from 6 family members, including 4 who were affected by the syndrome. Targeted next-generation sequencing and Sanger sequencing were performed to identify pathogenic mutations in this family. RESULTS: Pedigree analysis indicated that the mode of inheritance in the family was consistent with the autosomal dominant pattern. Hearing loss was the most common manifestation, occurring in 4 patients. Other findings included preauricular pits (n=2), cervical fistulas (n=3) and abnormal pinnae (n=4). None of the patients had renal anomalies. Evaluation by pure-tone audiometry and temporal bone imaging demonstrated bilateral mixed hearing loss, as well as middle ear and inner ear deformities, in two patients. Mutational analysis of candidate genes in the selected patients led to the identification of a novel frameshift variant NM_000503.4: c.1075_1077delinsAT (p.Gly359Ilefs*7) in the EYA1 gene. CONCLUSIONS: The EYA1 c.1075_1077delinsAT mutation is the causative variant in the Chinese family with BOS, although the penetrance is variable within patients.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Nucleares / Mutación del Sistema de Lectura / Proteínas Tirosina Fosfatasas / Síndrome Branquio Oto Renal / Péptidos y Proteínas de Señalización Intracelular Tipo de estudio: Prognostic_studies Límite: Humans / Infant / Male País/Región como asunto: Asia Idioma: En Revista: Int J Pediatr Otorhinolaryngol Año: 2020 Tipo del documento: Article Pais de publicación: Irlanda
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Nucleares / Mutación del Sistema de Lectura / Proteínas Tirosina Fosfatasas / Síndrome Branquio Oto Renal / Péptidos y Proteínas de Señalización Intracelular Tipo de estudio: Prognostic_studies Límite: Humans / Infant / Male País/Región como asunto: Asia Idioma: En Revista: Int J Pediatr Otorhinolaryngol Año: 2020 Tipo del documento: Article Pais de publicación: Irlanda