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15.04.2022 | Review Article

The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility

verfasst von: Saeedeh Askarian, Masoumeh Gholami, Ghazaleh Khalili-Tanha, Negin Chaeichi Tehrani, Mona Joudi, Majid Khazaei, Gordon A. Ferns, Seyed Mahdi Hassanian, Amir Avan, Marjan Joodi

Erschienen in: Oral and Maxillofacial Surgery | Ausgabe 2/2023

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Abstract

Cleft lip and cleft palate (CL/P) are among the most common congenital malformations in neonates and have syndromic or nonsyndromic forms. Nonsyndromic forms of malformation are being reported to be associated with chromosomal DNA modification by teratogenic exposure and to complex genetic contributions of multiple genes. Syndromic forms are shown to be related to chromosomal aberrations or monogenic diseases. There is a growing body of data illustrating the association of several genes with risk of developing this malformation, including genetic defects in T-box transcription factor-22 (TBX22), interferon regulatory factor-6 (IRF6), and poliovirus receptor-like-1 (PVRL1), responsible for X-linked cleft palate, cleft lip/palate-ectodermal dysplasia syndrome, and Van der Woude and popliteal pterygium syndromes, respectively. Genetic variants in MTR, PCYT1A, ASS1, SLC 25A13, GSTM1, GSTT1, SUMO1 BHMT1, and BHMT2 are being reported to be linked with CL/P risk. The etiology of nonsyndromic CLP is still remained to be unknown, although mutations in candidate genes have been found. Here, we provide an overview about the potential variants to be associated with CL/P for identification of the relative risk of CLP with respect to the basis of genetic background and environmental factors (e.g., dietary factors, alcohol use).

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Titel: The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility
verfasst von: Saeedeh Askarian
Masoumeh Gholami
Ghazaleh Khalili-Tanha
Negin Chaeichi Tehrani
Mona Joudi
Majid Khazaei
Gordon A. Ferns
Seyed Mahdi Hassanian
Amir Avan
Marjan Joodi
Publikationsdatum: 15.04.2022
Verlag: Springer Berlin Heidelberg
Erschienen in: Oral and Maxillofacial Surgery / Ausgabe 2/2023
Print ISSN: 1865-1550
Elektronische ISSN: 1865-1569
DOI: https://doi.org/10.1007/s10006-022-01052-3

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Recipient bed perfusion as a predictor for postoperative complications in irradiated patients with microvascular free tissue transfer of the head and neck area: a clinical analysis of 191 microvascular free flaps

Orbital reconstruction: a systematic review and meta-analysis evaluating the role of patient-specific implants

Orthognathic surgery in patients with systemic diseases

Significance of bisphosphonates on angiogenesis in vivo and their effect under geranyl-geraniol addition — could it alter the treatment of bisphosphonate-associated necrosis of the jaw?

Comparison of two surgical techniques (HOO vs. BSSO) for mandibular osteotomies in orthognathic surgery—a 10-year retrospective study

Isolated paediatric orbital fractures: a case series and review of management at a major trauma centre in the UK

Update Chirurgie