HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases
| Autor: | Yuehuan Zuo, Lingchao Meng, Rui Wu, He Lv, Zhaoxia Wang, Yuanyuan Lu, Yun Yuan, Jing Liu, Wei Zhang |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine Pathology medicine.medical_specialty Biopsy DNA Mutational Analysis Mitochondrial trifunctional protein deficiency Mitochondrial trifunctional protein medicine.disease_cause Compound heterozygosity Pathology and Forensic Medicine Polyneuropathies Young Adult 03 medical and health sciences Asian People Sural Nerve Charcot-Marie-Tooth Disease Carnitine medicine Humans Amino Acid Sequence Genetic testing Mutation medicine.diagnostic_test biology Mitochondrial Trifunctional Protein business.industry General Medicine medicine.disease Phenotype Axons 030104 developmental biology Neurology Child Preschool Mitochondrial Trifunctional Protein beta Subunit biology.protein Neurology (clinical) business HADHB |
| Zdroj: | Clinical Neuropathology. 37:232-238 |
| ISSN: | 0722-5091 |
| DOI: | 10.5414/np301097 |
| Popis: | Mitochondrial trifunctional protein deficiency (MTPD) is a rare disorder caused by mutations in the HADHA and HADHB genes. Here, we report on two Han Chinese patients with HADHB mutation-associated infantile axonal Charcot-Marie-Tooth disease (IACMT). Both patients were unrelated. Case 1 was a 19-year-old man, and case 2 was a 5-year-old boy. Both had delayed motor development and slowly-progressing distal muscle weakness with areflexia and foot deformities. The electrophysiology findings were compatible with axonal polyneuropathy in both patients. Blood tandem mass spectrometry showed increased concentrations of multiple acylcarnitines. Nerve biopsies showed axonal neuropathy with a moderate loss of myelinated fibers. Gene analysis identified two compound heterozygous mutations (c.184A>G/c.340A>G and c.488G>A/c.1175C>T, respectively) in the HADHB gene. The c.488G>A mutation was novel. This study broadens the phenotype of MTPD and suggests that the genetic testing of patients suffering from IACMT should include the HADHB gene. . |
| Databáze: | OpenAIRE |
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