A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability
Abstract Background The etiology of intellectual disabilities is diverse and includes both genetic and environmental factors. The genetic causes of intellectual disabilities range from chromosomal aberrations to single gene disorders. The TRAPPC9 gene has been reported to cause autosomal recessive f...
| Main Authors: | , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-11-01
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| Series: | BMC Medical Genomics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12920-022-01354-1 |
| _version_ | 1797988522930470912 |
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| author | Mutaz Amin Cedric Vignal Esraa Eltaraifee Inaam N. Mohammed Ahlam A. A. Hamed Maha A. Elseed Arwa Babai Iman Elbadi Doua Mustafa Rayan Abubaker Mohamed Mustafa Severine Drunat Liena E. O. Elsayed Ammar E. Ahmed Odile Boespflug-Tanguy Imen Dorboz |
| author_facet | Mutaz Amin Cedric Vignal Esraa Eltaraifee Inaam N. Mohammed Ahlam A. A. Hamed Maha A. Elseed Arwa Babai Iman Elbadi Doua Mustafa Rayan Abubaker Mohamed Mustafa Severine Drunat Liena E. O. Elsayed Ammar E. Ahmed Odile Boespflug-Tanguy Imen Dorboz |
| author_sort | Mutaz Amin |
| collection | DOAJ |
| description | Abstract Background The etiology of intellectual disabilities is diverse and includes both genetic and environmental factors. The genetic causes of intellectual disabilities range from chromosomal aberrations to single gene disorders. The TRAPPC9 gene has been reported to cause autosomal recessive forms of intellectual disabilities in 56 patients from consanguineous and non-consanguineous families around the world. Methods We analyzed two siblings with intellectual disability, microcephaly and delayed motor and speech development from a consanguineous Sudanese family. Genomic DNA was screened for mutations using NGS panel (NextSeq500 Illumina) testing 173 microcephaly associated genes in the Molecular Genetics service in Robert Debre hospital in Paris, France. Results A novel homozygous mutation (NM_031466.7 (TRAPPC9):c.2288dup, p. (Val764Glyfs*7) in exon 14 of TRAPPC9 gene was found in the two patients. The mutation was predicted to cause nonsense mediated decay (NSMD) using SIFT prediction tool. The variant has not been found in either gnomAD or Exac databases. Both parents were heterozygous (carriers) to the mutation. Conclusion This is the first study to report patients with TRAPPC9-related disorder from Sub-Saharan Africa. |
| first_indexed | 2024-04-11T08:05:23Z |
| format | Article |
| id | doaj.art-f46e6638b38a4340af6381da3127577b |
| institution | Directory Open Access Journal |
| issn | 1755-8794 |
| language | English |
| last_indexed | 2024-04-11T08:05:23Z |
| publishDate | 2022-11-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genomics |
| spelling | doaj.art-f46e6638b38a4340af6381da3127577b2022-12-22T04:35:36ZengBMCBMC Medical Genomics1755-87942022-11-011511510.1186/s12920-022-01354-1A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disabilityMutaz Amin0Cedric Vignal1Esraa Eltaraifee2Inaam N. Mohammed3Ahlam A. A. Hamed4Maha A. Elseed5Arwa Babai6Iman Elbadi7Doua Mustafa8Rayan Abubaker9Mohamed Mustafa10Severine Drunat11Liena E. O. Elsayed12Ammar E. Ahmed13Odile Boespflug-Tanguy14Imen Dorboz15Faculty of Medicine, Al-Neelain UniversityUnité de Génétique Moleculaire, Departement de Genetique Médicale, APHP, Hopital Robert-DebréFaculty of Medicine, University of KhartoumFaculty of Medicine, University of KhartoumFaculty of Medicine, University of KhartoumFaculty of Medicine, University of KhartoumFaculty of Medicine, University of KhartoumFaculty of Medicine, University of KhartoumFaculty of Medicine, University of KhartoumFaculty of Medicine, University of KhartoumFaculty of Medicine, University of KhartoumINSERM UMR 1141 PROTECT, Université Paris Diderot- Sorbonne Paris CitéDepartment of Basic Sciences, College of Medicine, Princess Nourah Bint Abdulrahman UniversityFaculty of Medicine, University of KhartoumINSERM UMR 1141 PROTECT, Université Paris Diderot- Sorbonne Paris CitéINSERM UMR 1141 PROTECT, Université Paris Diderot- Sorbonne Paris CitéAbstract Background The etiology of intellectual disabilities is diverse and includes both genetic and environmental factors. The genetic causes of intellectual disabilities range from chromosomal aberrations to single gene disorders. The TRAPPC9 gene has been reported to cause autosomal recessive forms of intellectual disabilities in 56 patients from consanguineous and non-consanguineous families around the world. Methods We analyzed two siblings with intellectual disability, microcephaly and delayed motor and speech development from a consanguineous Sudanese family. Genomic DNA was screened for mutations using NGS panel (NextSeq500 Illumina) testing 173 microcephaly associated genes in the Molecular Genetics service in Robert Debre hospital in Paris, France. Results A novel homozygous mutation (NM_031466.7 (TRAPPC9):c.2288dup, p. (Val764Glyfs*7) in exon 14 of TRAPPC9 gene was found in the two patients. The mutation was predicted to cause nonsense mediated decay (NSMD) using SIFT prediction tool. The variant has not been found in either gnomAD or Exac databases. Both parents were heterozygous (carriers) to the mutation. Conclusion This is the first study to report patients with TRAPPC9-related disorder from Sub-Saharan Africa.https://doi.org/10.1186/s12920-022-01354-1Autosomal recessiveIntellectual disabilityTRAPPC9NovelSudan |
| spellingShingle | Mutaz Amin Cedric Vignal Esraa Eltaraifee Inaam N. Mohammed Ahlam A. A. Hamed Maha A. Elseed Arwa Babai Iman Elbadi Doua Mustafa Rayan Abubaker Mohamed Mustafa Severine Drunat Liena E. O. Elsayed Ammar E. Ahmed Odile Boespflug-Tanguy Imen Dorboz A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability BMC Medical Genomics Autosomal recessive Intellectual disability TRAPPC9 Novel Sudan |
| title | A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability |
| title_full | A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability |
| title_fullStr | A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability |
| title_full_unstemmed | A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability |
| title_short | A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability |
| title_sort | novel homozygous mutation in trappc9 gene causing autosomal recessive non syndromic intellectual disability |
| topic | Autosomal recessive Intellectual disability TRAPPC9 Novel Sudan |
| url | https://doi.org/10.1186/s12920-022-01354-1 |
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