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Greig Cephalopolysyndactyly Syndrome: Phenotypic Variability Associated with Variants in Two Different Domains of GLI3.
Khan, Hammal; Ahmed, Sohail; Nawaz, Sadia; Ahmad, Wasim; Rafiq, Muhammad Arshad.
Afiliación
  • Khan H; Department of Biosciences, COMSATS University, Islamabad, Pakistan.
  • Ahmed S; Institute of Biochemistry, University of Balochistan, Quetta, Pakistan.
  • Nawaz S; Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences, Lahore, Pakistan.
  • Ahmad W; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Rafiq MA; Department of Biosciences, COMSATS University, Islamabad, Pakistan.
Klin Padiatr ; 233(2): 53-58, 2021 Mar.
Article en En | MEDLINE | ID: mdl-33339065
BACKGROUND: GLI3 is a transcriptional regulator of several genes involved in mammalian skeletal development. Mutations in the pleiotropic gene GLI3 may result in different inherited disorders including Greig cephalopolysyndactyly syndrome (GCPS). GCPS is characterized by mild to severe craniofacial and limb malformations. METHODS AND RESULTS: Here, we report clinical and molecular study of 3 families with GCPS originated in different regions of Pakistan. Sanger sequencing revealed two novel variants including a frameshift [c. 3790_3791InsC, p.(Gly1236Argfs*11)] and a missense [c.1692A>G, p.(His536Arg)], and one previously reported variant [c.1965_1966delAT, p.(His627Glufs*48)] located in 2 different domains of the GLI3. CONCLUSION: This study not only expanded spectrum of the mutations in the GLI3 but also highlighted phenotypic variability in the GCPS patients. This will facilitate diagnosis and genetic counseling of families with same and related disorders in the Pakistani population.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factores de Transcripción de Tipo Kruppel / Proteínas del Tejido Nervioso Tipo de estudio: Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Klin Padiatr Año: 2021 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factores de Transcripción de Tipo Kruppel / Proteínas del Tejido Nervioso Tipo de estudio: Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Klin Padiatr Año: 2021 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Alemania