NDLI: Greig Cephalopolysyndactyly Syndrome: Phenotypic Variability Associated with Variants in Two Different Domains of GLI3

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Greig Cephalopolysyndactyly Syndrome: Phenotypic Variability Associated with Variants in Two Different Domains of GLI3

Content Provider	Scilit
Author	Khan, Hammal Ahmed, Sohail Nawaz, Sadia Ahmad, Wasim Rafiq, Muhammad Arshad Abdullah
Copyright Year	2020
Description	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.(Gly1236Argfs11)] and a missense [c.1692A>G, p.(His536Arg)], and one previously reported variant [c.1965_1966delAT, p.(His627Glufs48)] 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.
Related Links	http://www.thieme-connect.de/products/ejournals/pdf/10.1055/a-1223-2489.pdf
Ending Page	58
Page Count	6
Starting Page	53
ISSN	03008630
e-ISSN	14393824
DOI	10.1055/a-1223-2489
Journal	Klinische Padiatrie
Issue Number	02
Volume Number	233
Language	English
Publisher	Georg Thieme Verlag KG
Publisher Date	2020-12-18
Access Restriction	Open
Subject Keyword	Journal: Klinische Padiatrie Schlüsselwörter Gli3 Greig-zephalopolysyndaktylie-syndrom Neuartige Varianten Phänotypische Variabilität Sanger-sequenzierung
Content Type	Text
Resource Type	Article
Subject	Pediatrics, Perinatology and Child Health

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