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J Pediatr Genet 2024; 13(01): 069-079
DOI: 10.1055/s-0041-1736613
Case-Based Review

Osteogenesis Imperfecta and Split Foot Malformation due to 7q21.2q21.3 Deletion Including COL1A2, DLX5/6 Genes: Review of the Literature

Özden Öztürk
1   Department of Medical Genetics, Medical School of Adiyaman University, Adiyaman, Türkiye
,
Haydar Bagis 
1   Department of Medical Genetics, Medical School of Adiyaman University, Adiyaman, Türkiye
,
Semih Bolu 
2   Department of Pediatrics, Division of Pediatric Endocrinology, Medical School of Adiyaman University, Adiyaman, Türkiye
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Abstract

Copy number variation in loss of 7q21 is a genetic disorder characterized by split hand/foot malformation, hearing loss, developmental delay, myoclonus, dystonia, joint laxity, and psychiatric disorders. Osteogenesis imperfecta caused by whole gene deletions of COL1A2 is a very rare condition. We report a Turkish girl with ectrodactyly, joint laxity, multiple bone fractures, blue sclera, early teeth decay, mild learning disability, and depression. A copy number variant in loss of 4.8 Mb at chromosome 7 (q21.2q21.3) included the 58 genes including DLX5, DLX6, DYNC1I1, SLC25A13, SGCE, and COL1A2. They were identified by chromosomal microarray analysis. We compared the findings in our patients with those previously reported. This case report highlights the importance of using microarray to identify the genetic etiology in patients with ectrodactyly and osteogenesis imperfecta.

Keywords

7q21 deletion - ectrodactyly - osteogenesis imperfecta - split foot malformation - SHFM

Availability of Data and Materials

All data used in this study are available from the corresponding author on reasonable request.


Authors' Contributions

H.B. and Ö.Ö. designed the study; S.B. and Ö.Ö. examined the patient and family; H.B. and Ö.Ö. wrote the manuscript and evaluated the genetic test. All authors read and approved the final manuscript.




Publication History

Received: 11 April 2021

Accepted: 22 September 2021

Article published online:
02 November 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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