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A novel mutation in the ubiquinol-cytochrome c reductase synthesis-like gene associated with complex III deficiency and Björnstad syndrome: A case report.
Medicine (Baltimore). 2020 Oct 30; 99(44):e23026.M

Abstract

RATIONALE

The ubiquinol-cytochrome c reductase synthesis-like (BCS1L) gene is located on chromosome 2 (2q35) and encodes an ATPase that is associated with various cellular activities and is embedded in the mitochondrial inner membrane; this ATPase is presumed to facilitate the insertion of the Rieske Fe/S protein into precursors of Complex III (CIII) during the assembly of the respiratory chain. We report the first case of a compound heterozygous mutation in the BCS1L gene in China.

PATIENT CONCERNS

A 7-month-old girl presented with a 3-month history of psychomotor developmental retardation and a 1-month history of epilepsy combined with parallel psychomotor developmental deterioration. The clinical manifestations in the patient included psychomotor developmental retardation, infantile spasms, pili torti, tubulopathy, hepatic pathologies and lactic acidosis.

DIAGNOSIS

Combined with her clinical presentation, the patient was diagnosed with CIII deficiency and Björnstad syndrome caused by a novel mutation in the BCS1L gene after molecular biological examination. Whole exome sequencing revealed a compound heterozygous mutation with a missense mutation (c.548G > A/p. R183H) inherited from her mother and an insertion mutation (c.1061_1062insCTA/p. G354delinsGY) inherited from her father.

INTERVENTIONS

Before admission, the patient had received oral topiramate for 1 month. After admission, additional intravenous arginine hydrochloride was administered for five days in the acute metabolic disorder phase, and persistent cocktail therapy was introduced, including coenzyme Q10 (20 mg/d), carnitine (1 g/d) and vitamins (vitamin B1, vitamin B2, vitamin B6, and vitamin C).

OUTCOMES

The spasm seizures were decreased by 50% after 2 weeks of treatment. The blood ammonia, myocardial enzyme and urine glucose levels declined to normal levels. At a 1-month follow-up, the patient improved clinically with a decrease in spasm seizures of 75%, stronger sucking and more voluntary activities. However, she still had mild lactic acidosis and mild hepatic damage.

LESSONS

We reported the first patient with CIII deficiency and Björnstad syndrome in China and identified 1 novel mutation (C.1061_1062insCTA and P. G354delinsGY) in the BCS1L gene. This finding expands the BCS1L gene mutation profile and will be beneficial for genetic diagnosis.

Authors+Show Affiliations

Department of Rehabilitation Medicine.Department of Pediatric Neurology, The First Hospital of Jilin University, Changchun, Jilin, China.Department of Pediatric Neurology, The First Hospital of Jilin University, Changchun, Jilin, China.Department of Pediatric Neurology, The First Hospital of Jilin University, Changchun, Jilin, China.Department of Pediatric Neurology, The First Hospital of Jilin University, Changchun, Jilin, China.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

33126389

Citation

Liu, Xuncan, et al. "A Novel Mutation in the Ubiquinol-cytochrome C Reductase Synthesis-like Gene Associated With Complex III Deficiency and Björnstad Syndrome: a Case Report." Medicine, vol. 99, no. 44, 2020, pp. e23026.
Liu X, Zhang Y, Liang J, et al. A novel mutation in the ubiquinol-cytochrome c reductase synthesis-like gene associated with complex III deficiency and Björnstad syndrome: A case report. Medicine (Baltimore). 2020;99(44):e23026.
Liu, X., Zhang, Y., Liang, J., Yang, S., & Chen, C. (2020). A novel mutation in the ubiquinol-cytochrome c reductase synthesis-like gene associated with complex III deficiency and Björnstad syndrome: A case report. Medicine, 99(44), e23026. https://doi.org/10.1097/MD.0000000000023026
Liu X, et al. A Novel Mutation in the Ubiquinol-cytochrome C Reductase Synthesis-like Gene Associated With Complex III Deficiency and Björnstad Syndrome: a Case Report. Medicine (Baltimore). 2020 Oct 30;99(44):e23026. PubMed PMID: 33126389.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel mutation in the ubiquinol-cytochrome c reductase synthesis-like gene associated with complex III deficiency and Björnstad syndrome: A case report. AU - Liu,Xuncan, AU - Zhang,Yanfeng, AU - Liang,Jianmin, AU - Yang,Si, AU - Chen,Chen, PY - 2020/10/31/entrez PY - 2020/11/1/pubmed PY - 2020/11/12/medline SP - e23026 EP - e23026 JF - Medicine JO - Medicine (Baltimore) VL - 99 IS - 44 N2 - RATIONALE: The ubiquinol-cytochrome c reductase synthesis-like (BCS1L) gene is located on chromosome 2 (2q35) and encodes an ATPase that is associated with various cellular activities and is embedded in the mitochondrial inner membrane; this ATPase is presumed to facilitate the insertion of the Rieske Fe/S protein into precursors of Complex III (CIII) during the assembly of the respiratory chain. We report the first case of a compound heterozygous mutation in the BCS1L gene in China. PATIENT CONCERNS: A 7-month-old girl presented with a 3-month history of psychomotor developmental retardation and a 1-month history of epilepsy combined with parallel psychomotor developmental deterioration. The clinical manifestations in the patient included psychomotor developmental retardation, infantile spasms, pili torti, tubulopathy, hepatic pathologies and lactic acidosis. DIAGNOSIS: Combined with her clinical presentation, the patient was diagnosed with CIII deficiency and Björnstad syndrome caused by a novel mutation in the BCS1L gene after molecular biological examination. Whole exome sequencing revealed a compound heterozygous mutation with a missense mutation (c.548G > A/p. R183H) inherited from her mother and an insertion mutation (c.1061_1062insCTA/p. G354delinsGY) inherited from her father. INTERVENTIONS: Before admission, the patient had received oral topiramate for 1 month. After admission, additional intravenous arginine hydrochloride was administered for five days in the acute metabolic disorder phase, and persistent cocktail therapy was introduced, including coenzyme Q10 (20 mg/d), carnitine (1 g/d) and vitamins (vitamin B1, vitamin B2, vitamin B6, and vitamin C). OUTCOMES: The spasm seizures were decreased by 50% after 2 weeks of treatment. The blood ammonia, myocardial enzyme and urine glucose levels declined to normal levels. At a 1-month follow-up, the patient improved clinically with a decrease in spasm seizures of 75%, stronger sucking and more voluntary activities. However, she still had mild lactic acidosis and mild hepatic damage. LESSONS: We reported the first patient with CIII deficiency and Björnstad syndrome in China and identified 1 novel mutation (C.1061_1062insCTA and P. G354delinsGY) in the BCS1L gene. This finding expands the BCS1L gene mutation profile and will be beneficial for genetic diagnosis. SN - 1536-5964 UR - https://wwww.unboundmedicine.com/medline/citation/33126389/A_novel_mutation_in_the_ubiquinol_cytochrome_c_reductase_synthesis_like_gene_associated_with_complex_III_deficiency_and_Björnstad_syndrome:_A_case_report_ DB - PRIME DP - Unbound Medicine ER -