Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient
Abstract Background Of the many types of mitochondrial diseases, mutations affecting BCS1L gene are regarded as chief cause of the defective mitochondrial complex-III, affecting normal mitochondrial functioning, and leading to wide variety of phenotypes. Case presentation In this case report we desc...
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| Format: | Article |
| Language: | English |
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BMC
2022-03-01
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| Series: | BMC Medical Genomics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12920-022-01210-2 |
| _version_ | 1818319748797038592 |
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| author | Mansour Al Qurashi Ahmed Mustafa Syed Sameer Aga Abrar Ahmad Abdellatif El-Farra Aiman Shawli Mohammed Al Hindi Mohammed Hasosah |
| author_facet | Mansour Al Qurashi Ahmed Mustafa Syed Sameer Aga Abrar Ahmad Abdellatif El-Farra Aiman Shawli Mohammed Al Hindi Mohammed Hasosah |
| author_sort | Mansour Al Qurashi |
| collection | DOAJ |
| description | Abstract Background Of the many types of mitochondrial diseases, mutations affecting BCS1L gene are regarded as chief cause of the defective mitochondrial complex-III, affecting normal mitochondrial functioning, and leading to wide variety of phenotypes. Case presentation In this case report we describe a novel genotype linked to a unique phenotype in a Saudi patient born of a consanguineous marriage. Detailed genetic analysis and whole genome sequencing identified a novel homozygous missense mutation in exon 5 c.712A > G (p.Ser328Gly) of the BCS1L gene, with predicted deleterious effects on the functioning AAA+-ATPase domain of the protein characterized by distinct clinical presentation associated with profound multisystem involvement, conductive hearing loss, absent external auditory canal, low posterior hair line, short neck, micro and retrognathia, over riding fingers, rocker bottom foot, small phallus with bilateral absent testis (empty scrotum) and intolerable lactic acidosis. Conclusions A pathogenic effect of this novel BCS1L mutation was reflected in the patient with his failure to thrive and a complex clinical and metabolic phenotype. |
| first_indexed | 2024-12-13T10:14:03Z |
| format | Article |
| id | doaj.art-6797a8091da84c42802e1a9290a04e83 |
| institution | Directory Open Access Journal |
| issn | 1755-8794 |
| language | English |
| last_indexed | 2024-12-13T10:14:03Z |
| publishDate | 2022-03-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genomics |
| spelling | doaj.art-6797a8091da84c42802e1a9290a04e832022-12-21T23:51:21ZengBMCBMC Medical Genomics1755-87942022-03-011511910.1186/s12920-022-01210-2Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patientMansour Al Qurashi0Ahmed Mustafa1Syed Sameer Aga2Abrar Ahmad3Abdellatif El-Farra4Aiman Shawli5Mohammed Al Hindi6Mohammed Hasosah7Department of Pediatrics, Neonatology Division, King Abdullah International Medical Research Centre (KAIMRC), King Saud Bin Abdul Aziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (NGHA), King Abdulaziz Medical CityDepartment of Pediatrics, Neonatology Division, King Abdullah International Medical Research Centre (KAIMRC), King Saud Bin Abdul Aziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (NGHA), King Abdulaziz Medical CityDepartment of Basic Medical Sciences, College of Medicine, King Saud Bin Abdul Aziz University for Health Sciences (KSAU-HS), King Abdullah International Medical Research Centre (KAIMRC), Ministry of National Guard Health Affairs (NGHA), King Abdulaziz Medical CityDepartment of Pediatrics, Neonatology Division, King Abdullah International Medical Research Centre (KAIMRC), King Saud Bin Abdul Aziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (NGHA), King Abdulaziz Medical CityDepartment of Pediatrics, Neonatology Division, King Abdullah International Medical Research Centre (KAIMRC), King Saud Bin Abdul Aziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (NGHA), King Abdulaziz Medical CityDepartment of Pediatrics, Neonatology Division, King Abdullah International Medical Research Centre (KAIMRC), King Saud Bin Abdul Aziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (NGHA), King Abdulaziz Medical CityDepartment of Pediatrics, Neonatology Division, King Abdullah International Medical Research Centre (KAIMRC), King Saud Bin Abdul Aziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (NGHA), King Abdulaziz Medical CityDepartment of Pediatrics, Neonatology Division, King Abdullah International Medical Research Centre (KAIMRC), King Saud Bin Abdul Aziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (NGHA), King Abdulaziz Medical CityAbstract Background Of the many types of mitochondrial diseases, mutations affecting BCS1L gene are regarded as chief cause of the defective mitochondrial complex-III, affecting normal mitochondrial functioning, and leading to wide variety of phenotypes. Case presentation In this case report we describe a novel genotype linked to a unique phenotype in a Saudi patient born of a consanguineous marriage. Detailed genetic analysis and whole genome sequencing identified a novel homozygous missense mutation in exon 5 c.712A > G (p.Ser328Gly) of the BCS1L gene, with predicted deleterious effects on the functioning AAA+-ATPase domain of the protein characterized by distinct clinical presentation associated with profound multisystem involvement, conductive hearing loss, absent external auditory canal, low posterior hair line, short neck, micro and retrognathia, over riding fingers, rocker bottom foot, small phallus with bilateral absent testis (empty scrotum) and intolerable lactic acidosis. Conclusions A pathogenic effect of this novel BCS1L mutation was reflected in the patient with his failure to thrive and a complex clinical and metabolic phenotype.https://doi.org/10.1186/s12920-022-01210-2BCS1L geneComplex IIIMitopathyMetabolic acidosisBjörnstad syndromeLeigh syndrome |
| spellingShingle | Mansour Al Qurashi Ahmed Mustafa Syed Sameer Aga Abrar Ahmad Abdellatif El-Farra Aiman Shawli Mohammed Al Hindi Mohammed Hasosah Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient BMC Medical Genomics BCS1L gene Complex III Mitopathy Metabolic acidosis Björnstad syndrome Leigh syndrome |
| title | Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient |
| title_full | Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient |
| title_fullStr | Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient |
| title_full_unstemmed | Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient |
| title_short | Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient |
| title_sort | clinical and diagnostic characteristics of complex iii mitopathy due to novel bcs1l gene mutation in a saudi patient |
| topic | BCS1L gene Complex III Mitopathy Metabolic acidosis Björnstad syndrome Leigh syndrome |
| url | https://doi.org/10.1186/s12920-022-01210-2 |
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