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J Pediatr Genet
DOI: 10.1055/s-0043-1771527
Original Article

TWIST1 Gene Variants Cause Craniosynostosis with Limb Abnormalities in Asian Patients

Shalini Dhiman
1   Department of Pediatrics, PGIMER, Chandigarh, India
,
Inusha Panigrahi 
1   Department of Pediatrics, PGIMER, Chandigarh, India
,
Maryada Sharma 
2   Department of Otorhinolaryngology, PGIMER, Chandigarh, India
,
Chakshu Chaudhry
1   Department of Pediatrics, PGIMER, Chandigarh, India
,
Mahak Garg
1   Department of Pediatrics, PGIMER, Chandigarh, India
› Author Affiliations
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Abstract

The TWIST1 gene codes for a highly conserved transcription factor in a basic helix–loop–helix transcription factors family. The pattern of inheritance is autosomal dominant in Saethre–Chotzen syndrome, Robinow–Sorauf syndrome, and Sweeney–Cox syndrome. Major features of these syndromes include coronal synostosis, vision problems, and deafness, and facial features include hypertelorism, low-set ears, arched eyebrows, beaked nose, maxillary hypoplasia, and other dysmorphisms including broad great toes, clinodactyly, brachydactyly, and cutaneous syndactyly. TWIST1 (bHLH) transcription factor regulates the formation of head and limbs in the embryo. We describe three families affected with craniosynostosis in whom a sporadic TWIST1 variant was identified on whole exome sequencing, chromosomal microarray, and Sanger sequencing.

Keywords

craniosynostosis - craniofacial - SCS - syndactyly - ptosis

Data Availability Statement

The data of the patients can be obtained from the corresponding author and has not been given publicly due to privacy or ethical restrictions.


Supplementary Material



Publication History

Received: 23 August 2022

Accepted: 25 June 2023

Article published online:
28 July 2023

© 2023. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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