Your browser doesn't support javascript.
loading
Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome.
Wang, Li; Lin, Qiong-Fen; Wang, Hong-Yang; Guan, Jing; Lan, Lan; Xie, Lin-Yi; Yu, Lan; Yang, Ju; Zhao, Cui; Liang, Jin-Long; Zhou, Han-Lin; Yang, Huan-Ming; Xiong, Wen-Ping; Zhang, Qiu-Jing; Wang, Da-Yong; Wang, Qiu-Ju.
Afiliación
  • Wang L; Department of Otolaryngology Head and Neck Surgery, Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853; Department of Clinical Medicine, School of Medicine, Nankai University, Tianjin 300071, China.
  • Lin QF; Beijing Genomics Institute, Shenzhen, Guangdong 518083, China.
  • Wang HY; Department of Otolaryngology Head and Neck Surgery, Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
  • Guan J; Department of Otolaryngology Head and Neck Surgery, Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
  • Lan L; Department of Otolaryngology Head and Neck Surgery, Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
  • Xie LY; Department of Otolaryngology Head and Neck Surgery, Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
  • Yu L; Department of Otolaryngology Head and Neck Surgery, Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
  • Yang J; Department of Otolaryngology Head and Neck Surgery, Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
  • Zhao C; Department of Otolaryngology Head and Neck Surgery, Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
  • Liang JL; Beijing Genomics Institute, Shenzhen, Guangdong 518083, China.
  • Zhou HL; Beijing Genomics Institute, Shenzhen, Guangdong 518083, China.
  • Yang HM; Beijing Genomics Institute, Shenzhen, Guangdong 518083; James D. Watson Institute of Genome Sciences, Hangzhou, Zhejiang 310058, China.
  • Xiong WP; Department of Otolaryngology Head and Neck Surgery, Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
  • Zhang QJ; Department of Otolaryngology Head and Neck Surgery, Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
  • Wang DY; Department of Otolaryngology Head and Neck Surgery, Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
  • Wang QJ; Department of Otolaryngology Head and Neck Surgery, Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
Chin Med J (Engl) ; 130(6): 703-709, 2017 Mar 20.
Article en En | MEDLINE | ID: mdl-28303854
BACKGROUND: Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 (GATA3) gene mutations, and hearing loss is the most frequent phenotypic feature. This study aimed at identifying the causative gene mutation for a three-generation Chinese family with HDR syndrome and analyzing auditory phenotypes in all familial HDR syndrome cases. METHODS: Three affected family members underwent otologic examinations, biochemistry tests, and other clinical evaluations. Targeted genes capture combining next-generation sequencing was performed within the family. Sanger sequencing was used to confirm the causative mutation. The auditory phenotypes of all reported familial HDR syndrome cases analyzed were provided. RESULTS: In Chinese family 7121, a heterozygous nonsense mutation c.826C>T (p.R276*) was identified in GATA3. All the three affected members suffered from sensorineural deafness and hypocalcemia; however, renal dysplasia only appeared in the youngest patient. Furthermore, an overview of thirty HDR syndrome families with corresponding GATA3 mutations revealed that hearing impairment occurred earlier in the younger generation in at least nine familial cases (30%) and two thirds of them were found to carry premature stop mutations. CONCLUSIONS: This study highlights the phenotypic heterogeneity of HDR and points to a possible genetic anticipation in patients with HDR, which needs to be further investigated.
Asunto(s)
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factor de Transcripción GATA3 / Pérdida Auditiva Sensorineural / Hipoparatiroidismo / Nefrosis Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans / Male Idioma: En Revista: Chin Med J (Engl) Año: 2017 Tipo del documento: Article País de afiliación: China Pais de publicación: China
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factor de Transcripción GATA3 / Pérdida Auditiva Sensorineural / Hipoparatiroidismo / Nefrosis Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans / Male Idioma: En Revista: Chin Med J (Engl) Año: 2017 Tipo del documento: Article País de afiliación: China Pais de publicación: China