Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome
Background. METTL5 gene is one of the members of methyltransferase superfamily and biallelic variants cause intellectual disability syndrome (ID) with microcephaly. This article reports three new cases with METTL5 related ID syndrome in a consanguineous family. Case. Afghanistan descen...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2022-10-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/233 |
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| _version_ | 1850236988680044544 |
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| author | Deniz Torun Mutluay Arslan Büşranur Çavdarlı Hatice Akar David Stephen Cram |
| author_facet | Deniz Torun Mutluay Arslan Büşranur Çavdarlı Hatice Akar David Stephen Cram |
| author_sort | Deniz Torun |
| collection | DOAJ |
| description |
Background. METTL5 gene is one of the members of methyltransferase superfamily and biallelic variants cause intellectual disability syndrome (ID) with microcephaly. This article reports three new cases with METTL5 related ID syndrome in a consanguineous family.
Case. Afghanistan descent family was affected by a novel homozygous c.362A > G (p.Asp121Gly) METTL5 gene variant. This variant is predicted to be `pathogenic` by multiple in-silico tools. Patients had dysmorphic and neurodevelopmental features including intellectual disability, microcephaly, poor/absent speech, delayed walking, aggressive behavior, large/posteriorly rotated ears, broad nasal base and short stature, which seem to be the cardinal findings of the designated syndrome.
Conclusions. While the data reported in these individuals indicate characteristic clinical features of METTL5 related ID syndrome, further investigations and study of additional cases are needed to improve the understanding of disease pathogenesis, and management.
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| format | Article |
| id | doaj-art-dfc9242c02f64b23b1da51b36e202cd8 |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2022-10-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-dfc9242c02f64b23b1da51b36e202cd82025-08-20T02:01:51ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212022-10-0164510.24953/turkjped.2020.3992Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndromeDeniz Torun0Mutluay Arslan1Büşranur Çavdarlı2Hatice Akar3David Stephen Cram4Departments of Medical Genetics, Gülhane Faculty of Medicine, University of Health Sciences, Ankara, Türkiye.Departments of Pediatric Neurology, Gülhane Faculty of Medicine, University of Health Sciences, Ankara, Türkiye.Department of Medical Genetics, Ankara City Hospital, Ankara, Türkiye.Departments of Medical Genetics, Gülhane Faculty of Medicine, University of Health Sciences, Ankara, Türkiye.Berry Genomics Corporation, Beijing, China. Background. METTL5 gene is one of the members of methyltransferase superfamily and biallelic variants cause intellectual disability syndrome (ID) with microcephaly. This article reports three new cases with METTL5 related ID syndrome in a consanguineous family. Case. Afghanistan descent family was affected by a novel homozygous c.362A > G (p.Asp121Gly) METTL5 gene variant. This variant is predicted to be `pathogenic` by multiple in-silico tools. Patients had dysmorphic and neurodevelopmental features including intellectual disability, microcephaly, poor/absent speech, delayed walking, aggressive behavior, large/posteriorly rotated ears, broad nasal base and short stature, which seem to be the cardinal findings of the designated syndrome. Conclusions. While the data reported in these individuals indicate characteristic clinical features of METTL5 related ID syndrome, further investigations and study of additional cases are needed to improve the understanding of disease pathogenesis, and management. https://turkjpediatr.org/article/view/233METTL5WESintellectual disabilitywhole exome sequencing |
| spellingShingle | Deniz Torun Mutluay Arslan Büşranur Çavdarlı Hatice Akar David Stephen Cram Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome The Turkish Journal of Pediatrics METTL5 WES intellectual disability whole exome sequencing |
| title | Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome |
| title_full | Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome |
| title_fullStr | Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome |
| title_full_unstemmed | Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome |
| title_short | Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome |
| title_sort | three afghani siblings with a novel homozygous variant and further delineation of the clinical features of mettl5 related intellectual disability syndrome |
| topic | METTL5 WES intellectual disability whole exome sequencing |
| url | https://turkjpediatr.org/article/view/233 |
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