A Missense Mutation in LMX1A in a Patient With Moebius Syndrome: A Case Report.
| Autor: | Alnefaie GO; Department of Pathology, College of Medicine, Taif University, Taif, SAU. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2022 Oct 10; Vol. 14 (10), pp. e30127. Date of Electronic Publication: 2022 Oct 10 (Print Publication: 2022). |
| DOI: | 10.7759/cureus.30127 |
| Abstrakt: | Moebius syndrome is characterized by congenital complete or partial paralysis of the facial nerve and is often associated with orofacial and limb malformations. It is a rare syndrome that affects the sixth and seventh cranial nerves. Facial paralysis results in abnormal abduction of one or both eyes and facial paralysis or weakness. Moebius syndrome is an uncommon condition and only a few hundred cases have been reported in the literature. A seven-year-old girl with Moebius syndrome is featured in this report. She had asymmetrical facial expressions, ocular abduction anomalies, and swallowing difficulties. She also had mild low-set ears, hypertelorism, a short nose, and restricted jaw movements. Array-comparative genomic hybridization analysis of exosome sequencing showed a mutation p.Gln61Arg in exon 3 of LMX1A . Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2022, Alnefaie et al.) |
| Databáze: | MEDLINE |
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