Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease
Abstract Background Scleroderma is a multisystem disease, characterized by fibrosis of skin and internal organs, immune dysregulation, and vasculopathy. The etiology of the disease remains unknown, but it is likely multifactorial. However, the genetic basis for this condition is defined by multiple...
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| Format: | Article |
| Language: | English |
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BMC
2017-09-01
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| Series: | Pediatric Rheumatology Online Journal |
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| Online Access: | http://link.springer.com/article/10.1186/s12969-017-0200-2 |
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| author | Abdelali Zrhidri Saadia Amasdl Jaber Lyahyai Hanane Elouardi Bouchra Chkirate Laure Raymond Grégory Egéa Mohamed Taoudi Said El Mouatassim Abdelaziz Sefiani |
| author_facet | Abdelali Zrhidri Saadia Amasdl Jaber Lyahyai Hanane Elouardi Bouchra Chkirate Laure Raymond Grégory Egéa Mohamed Taoudi Said El Mouatassim Abdelaziz Sefiani |
| author_sort | Abdelali Zrhidri |
| collection | DOAJ |
| description | Abstract Background Scleroderma is a multisystem disease, characterized by fibrosis of skin and internal organs, immune dysregulation, and vasculopathy. The etiology of the disease remains unknown, but it is likely multifactorial. However, the genetic basis for this condition is defined by multiple genes that have only modest effect on disease susceptibility. Methods Three Moroccan siblings, born from non-consanguineous Moroccan healthy parents were referred for genetic evaluation of familial scleroderma. Whole Exome Sequencing was performed in the proband and his parents, in addition to Sanger sequencing that was carried out to confirm the results obtained. Results Mutation analysis showed two compound heterozygous mutations c.196C>T in exon 4 and c.635_636delTT in exon 9 of GNPTG gene. Sanger sequencing confirmed these mutations in the affected patient and demonstrated that their parents are heterozygous carriers. Conclusion Our findings expand the mutation spectrum of the GNPTG gene and extend the knowledge of the phenotype–genotype correlation of Mucolipidosis Type III gamma. This report also highlights the diagnostic utility of Next Generation Sequencing particularly when the clinical presentation did not point to specific genes. |
| first_indexed | 2024-12-11T06:47:50Z |
| format | Article |
| id | doaj.art-27d28f4c1c0c4a92b08b62c0ea7daab3 |
| institution | Directory Open Access Journal |
| issn | 1546-0096 |
| language | English |
| last_indexed | 2024-12-11T06:47:50Z |
| publishDate | 2017-09-01 |
| publisher | BMC |
| record_format | Article |
| series | Pediatric Rheumatology Online Journal |
| spelling | doaj.art-27d28f4c1c0c4a92b08b62c0ea7daab32022-12-22T01:17:00ZengBMCPediatric Rheumatology Online Journal1546-00962017-09-011511610.1186/s12969-017-0200-2Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like diseaseAbdelali Zrhidri0Saadia Amasdl1Jaber Lyahyai2Hanane Elouardi3Bouchra Chkirate4Laure Raymond5Grégory Egéa6Mohamed Taoudi7Said El Mouatassim8Abdelaziz Sefiani9Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V UniversityCentre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V UniversityCentre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V UniversityDépartement de pédiatrie médicale, Hôpital d’EnfantDépartement de pédiatrie médicale, Hôpital d’EnfantDépartement de Génétique Moléculaire, Laboratoire BiomnisDépartement de Génétique Moléculaire, Laboratoire BiomnisDépartement de Génétique Moléculaire, Laboratoire BiomnisDépartement de Génétique Moléculaire, Laboratoire BiomnisCentre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V UniversityAbstract Background Scleroderma is a multisystem disease, characterized by fibrosis of skin and internal organs, immune dysregulation, and vasculopathy. The etiology of the disease remains unknown, but it is likely multifactorial. However, the genetic basis for this condition is defined by multiple genes that have only modest effect on disease susceptibility. Methods Three Moroccan siblings, born from non-consanguineous Moroccan healthy parents were referred for genetic evaluation of familial scleroderma. Whole Exome Sequencing was performed in the proband and his parents, in addition to Sanger sequencing that was carried out to confirm the results obtained. Results Mutation analysis showed two compound heterozygous mutations c.196C>T in exon 4 and c.635_636delTT in exon 9 of GNPTG gene. Sanger sequencing confirmed these mutations in the affected patient and demonstrated that their parents are heterozygous carriers. Conclusion Our findings expand the mutation spectrum of the GNPTG gene and extend the knowledge of the phenotype–genotype correlation of Mucolipidosis Type III gamma. This report also highlights the diagnostic utility of Next Generation Sequencing particularly when the clinical presentation did not point to specific genes.http://link.springer.com/article/10.1186/s12969-017-0200-2Mucolipidosis III gammaGNPTGWhole exome sequencing |
| spellingShingle | Abdelali Zrhidri Saadia Amasdl Jaber Lyahyai Hanane Elouardi Bouchra Chkirate Laure Raymond Grégory Egéa Mohamed Taoudi Said El Mouatassim Abdelaziz Sefiani Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease Pediatric Rheumatology Online Journal Mucolipidosis III gamma GNPTG Whole exome sequencing |
| title | Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease |
| title_full | Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease |
| title_fullStr | Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease |
| title_full_unstemmed | Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease |
| title_short | Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease |
| title_sort | next generation sequencing identifies mutations in gnptg gene as a cause of familial form of scleroderma like disease |
| topic | Mucolipidosis III gamma GNPTG Whole exome sequencing |
| url | http://link.springer.com/article/10.1186/s12969-017-0200-2 |
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