Peroneal myoatrophy type 4H FGD4 new gene mutation in one case and literature review
OBJECTIVE: To explore the clinical and gene mutation characteristics of children with peroneal myoatrophy FGD4 mutations
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 54(2016), 3 vom: 15. März, Seite 218-21 |
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| Format: | Online-Aufsatz |
| Sprache: | Chinese |
| Veröffentlicht: |
2016
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| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
| Schlagworte: | Case Reports Journal Article Review FGD4 protein, human Microfilament Proteins |
| Zusammenfassung: | OBJECTIVE: To explore the clinical and gene mutation characteristics of children with peroneal myoatrophy FGD4 mutations METHOD: The clinical data of a patient with peroneal myoatrophy with novel FGD4 gene mutations were collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center for Biotechnology Information and PubMed (up to December 2014) by using search terms"muscular disorders, atrophic""peripheral nervous system diseases""genes". The clinical features and treatment of the patients with FGD4 gene mutations were studied RESULT: The patient was a 10-years-old boy, he was presented to our clinic due to lower extremity weakness for 3 years, worsening for one year with normal family history and birth history. When he was 6 years old, his feet turned inward as he walked, at 7 years of age, his toes pointed toward the ground, the heel could not touch the ground, the right foot was more serious. During the recent year his symptoms were worsened, manifested as clubfoot, foot drop, arched feet, crane legs, difficult in squatting, walking with swaying gait, easy to fall. He was brought to a number of domestic general hospitals' neurology clinic, he was clearly diagnosed as peroneal myoatrophy, but failed to make typing. Electromyography (EMG) showed neurogenic damage (peripheral neuropathy - motor and sensory fibers are involved). Target gene sequencing showed that the child had FGD4 genes compound heterozygous mutation: c. 338A> G and c. 1730G> A, where the former was inherited from his father, the latter inherited from his mother, it was a new mutation unreported previously. Literature search retrieved six reports (all in English literature) with FGD4 10 cases with mutations, which were expressed as peroneal myoatrophy, but were homozygous mutation CONCLUSION: This study found the FGD4 4th and the 14th exons' c. 338A> G and c. 1730G> A heterozygous mutations, and this mutations may lead to peroneal myoatrophy |
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| Beschreibung: | Date Completed 07.03.2017 Date Revised 02.12.2018 published: Print Citation Status MEDLINE |
| ISSN: | 0578-1310 |
| DOI: | 10.3760/cma.j.issn.0578-1310.2016.03.013 |