Siti Isya Wahdini, - and Fina Idamatussilmi, - and Rachmaniar Pramanasari, - and Almas Nur Prawoto, - and Citrawati Dyah Kencono Wungu, - and Indri Lakhsmi Putri, Indri and Gunadi, - Genotype-phenotype associations in microtia: a systematic review. Orphanet Journal of Rare Diseases, 19. ISSN 17501172

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Abstract

Abstract Background Microtia is a congenital ear malformation that can occur as isolated microtia or as part of a syndrome. The etiology is currently poorly understood, although there is strong evidence that genetics has a role in the occurrence of microtia. This systematic review aimed to determine the genes involved and the abnormalities in microtia patients' head and neck regions. Methods We used seven search engines to search all known literature on the genetic and phenotypic variables associated with the development or outcome of microtia. The identified publications were screened and selected based on inclusion and exclusion criteria and assessed for methodological quality using the Joanna Briggs Institute (JBI) critical appraisal tools. We found 40 papers in this systematic review with phenotypic data in microtia involving 1459 patients and 30 articles containing genetic data involved in microtia. Result The most common accompanying phenotype of all microtia patients was external ear canal atresia, while the most common head and neck abnormalities were the auricular, mental, and oral regions. The most common syndrome found was craniofacial microsomia syndrome. In the syndromic microtia group, the most common genes were TCOF1 (43.75%), SIX2 (4.69%), and HSPA9 (4.69%), while in the non-syndromic microtia group, the most frequently found gene was GSC exon 2 (25%), FANCB (16.67%), HOXA2 (8.33%), GSC exon 3 (8.33%), MARS1 (8.33%), and CDT1 (8.33%). Conclusions Our systematic review shows some genes involved in the microtia development, including TCOF1, SIX2, HSPA9, GSC exon 2, FANCB, HOXA2, GSC exon 3, MARS1, and CDT1 genes. We also reveal a genotype-phenotype association in microtia. In addition, further studies with more complete and comprehensive data are needed, including patients with complete data on syndromes, phenotypes, and genotypes.

Item Type:	Article
Subjects:	R Medicine > R Medicine (General) > R5-920 Medicine (General)
Divisions:	01. Fakultas Kedokteran > Bedah Plastik Rekonstruksi dan Estetik (Spesialis)
Creators:	Creators NIM Siti Isya Wahdini, - UNSPECIFIED Fina Idamatussilmi, - UNSPECIFIED Rachmaniar Pramanasari, - UNSPECIFIED Almas Nur Prawoto, - UNSPECIFIED Citrawati Dyah Kencono Wungu, - UNSPECIFIED Indri Lakhsmi Putri, Indri NIDN0011118305 Gunadi, - UNSPECIFIED
Depositing User:	arys fk
Date Deposited:	20 Jun 2024 07:06
Last Modified:	20 Jun 2024 07:06
URI:	http://repository.unair.ac.id/id/eprint/133409
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