A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome
Abstract Roifman syndrome (OMIM# 616651) is a complex syndrome encompassing skeletal dysplasia, immunodeficiency, retinal dystrophy and developmental delay, and is caused by compound heterozygous mutations involving the Stem II region and one of the other domains of the RNU4ATAC gene. This small nuc...
Guardado en:
| Autores principales: | , , , , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Nature Portfolio
2017
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/5c85803a6a3d497fb151cb7917e06371 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:5c85803a6a3d497fb151cb7917e06371 |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:5c85803a6a3d497fb151cb7917e063712021-12-02T11:42:12ZA homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome10.1038/s41525-017-0024-52056-7944https://doaj.org/article/5c85803a6a3d497fb151cb7917e063712017-07-01T00:00:00Zhttps://doi.org/10.1038/s41525-017-0024-5https://doaj.org/toc/2056-7944Abstract Roifman syndrome (OMIM# 616651) is a complex syndrome encompassing skeletal dysplasia, immunodeficiency, retinal dystrophy and developmental delay, and is caused by compound heterozygous mutations involving the Stem II region and one of the other domains of the RNU4ATAC gene. This small nuclear RNA gene is essential for minor intron splicing. The Canadian Centre for Primary Immunodeficiency Registry and Repository were used to derive patient information as well as tissues. Utilising RNA sequencing methodologies, we analysed samples from patients with Roifman syndrome and assessed intron retention. We demonstrate that a homozygous mutation in Stem II is sufficient to cause the full spectrum of features associated with typical Roifman syndrome. Further, we demonstrate the same pattern of aberration in minor intron retention as found in cases with compound heterozygous mutations.Yael Dinur SchejterAdi OvadiaRoumiana AlexandrovaBhooma ThiruvahindrapuramSergio L. PereiraDavid E. MansonAjoy VincentDaniele MericoChaim M. RoifmanNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 2, Iss 1, Pp 1-8 (2017) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Medicine R Genetics QH426-470 |
| spellingShingle |
Medicine R Genetics QH426-470 Yael Dinur Schejter Adi Ovadia Roumiana Alexandrova Bhooma Thiruvahindrapuram Sergio L. Pereira David E. Manson Ajoy Vincent Daniele Merico Chaim M. Roifman A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome |
| description |
Abstract Roifman syndrome (OMIM# 616651) is a complex syndrome encompassing skeletal dysplasia, immunodeficiency, retinal dystrophy and developmental delay, and is caused by compound heterozygous mutations involving the Stem II region and one of the other domains of the RNU4ATAC gene. This small nuclear RNA gene is essential for minor intron splicing. The Canadian Centre for Primary Immunodeficiency Registry and Repository were used to derive patient information as well as tissues. Utilising RNA sequencing methodologies, we analysed samples from patients with Roifman syndrome and assessed intron retention. We demonstrate that a homozygous mutation in Stem II is sufficient to cause the full spectrum of features associated with typical Roifman syndrome. Further, we demonstrate the same pattern of aberration in minor intron retention as found in cases with compound heterozygous mutations. |
| format |
article |
| author |
Yael Dinur Schejter Adi Ovadia Roumiana Alexandrova Bhooma Thiruvahindrapuram Sergio L. Pereira David E. Manson Ajoy Vincent Daniele Merico Chaim M. Roifman |
| author_facet |
Yael Dinur Schejter Adi Ovadia Roumiana Alexandrova Bhooma Thiruvahindrapuram Sergio L. Pereira David E. Manson Ajoy Vincent Daniele Merico Chaim M. Roifman |
| author_sort |
Yael Dinur Schejter |
| title |
A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome |
| title_short |
A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome |
| title_full |
A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome |
| title_fullStr |
A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome |
| title_full_unstemmed |
A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome |
| title_sort |
homozygous mutation in the stem ii domain of rnu4atac causes typical roifman syndrome |
| publisher |
Nature Portfolio |
| publishDate |
2017 |
| url |
https://doaj.org/article/5c85803a6a3d497fb151cb7917e06371 |
| work_keys_str_mv |
AT yaeldinurschejter ahomozygousmutationinthestemiidomainofrnu4ataccausestypicalroifmansyndrome AT adiovadia ahomozygousmutationinthestemiidomainofrnu4ataccausestypicalroifmansyndrome AT roumianaalexandrova ahomozygousmutationinthestemiidomainofrnu4ataccausestypicalroifmansyndrome AT bhoomathiruvahindrapuram ahomozygousmutationinthestemiidomainofrnu4ataccausestypicalroifmansyndrome AT sergiolpereira ahomozygousmutationinthestemiidomainofrnu4ataccausestypicalroifmansyndrome AT davidemanson ahomozygousmutationinthestemiidomainofrnu4ataccausestypicalroifmansyndrome AT ajoyvincent ahomozygousmutationinthestemiidomainofrnu4ataccausestypicalroifmansyndrome AT danielemerico ahomozygousmutationinthestemiidomainofrnu4ataccausestypicalroifmansyndrome AT chaimmroifman ahomozygousmutationinthestemiidomainofrnu4ataccausestypicalroifmansyndrome AT yaeldinurschejter homozygousmutationinthestemiidomainofrnu4ataccausestypicalroifmansyndrome AT adiovadia homozygousmutationinthestemiidomainofrnu4ataccausestypicalroifmansyndrome AT roumianaalexandrova homozygousmutationinthestemiidomainofrnu4ataccausestypicalroifmansyndrome AT bhoomathiruvahindrapuram homozygousmutationinthestemiidomainofrnu4ataccausestypicalroifmansyndrome AT sergiolpereira homozygousmutationinthestemiidomainofrnu4ataccausestypicalroifmansyndrome AT davidemanson homozygousmutationinthestemiidomainofrnu4ataccausestypicalroifmansyndrome AT ajoyvincent homozygousmutationinthestemiidomainofrnu4ataccausestypicalroifmansyndrome AT danielemerico homozygousmutationinthestemiidomainofrnu4ataccausestypicalroifmansyndrome AT chaimmroifman homozygousmutationinthestemiidomainofrnu4ataccausestypicalroifmansyndrome |
| _version_ |
1718395343731687424 |