A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis
Abstract A novel splice site mutation in the GTPBP2 gene was identified by whole‐exome sequencing in two siblings with microcephaly and progressive generalized muscular atrophy associated with hypotrichosis.
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2021-02-01
|
| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.3637 |
| _version_ | 1818916713937240064 |
|---|---|
| author | Isa Abdi Rad Ali Vahabi Elinaz Akbariazar |
| author_facet | Isa Abdi Rad Ali Vahabi Elinaz Akbariazar |
| author_sort | Isa Abdi Rad |
| collection | DOAJ |
| description | Abstract A novel splice site mutation in the GTPBP2 gene was identified by whole‐exome sequencing in two siblings with microcephaly and progressive generalized muscular atrophy associated with hypotrichosis. |
| first_indexed | 2024-12-20T00:22:33Z |
| format | Article |
| id | doaj.art-ae66994a6a8e4a64b84881c2541f24b0 |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-12-20T00:22:33Z |
| publishDate | 2021-02-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-ae66994a6a8e4a64b84881c2541f24b02022-12-21T20:00:10ZengWileyClinical Case Reports2050-09042021-02-019273273610.1002/ccr3.3637A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosisIsa Abdi Rad0Ali Vahabi1Elinaz Akbariazar2Cellular and Molecular Research Center Urmia University of Medical Sciences Urmia IranDepartment of Medical Genetics Urmia University of Medical Sciences Urmia IranDepartment of Medical Genetics Urmia University of Medical Sciences Urmia IranAbstract A novel splice site mutation in the GTPBP2 gene was identified by whole‐exome sequencing in two siblings with microcephaly and progressive generalized muscular atrophy associated with hypotrichosis.https://doi.org/10.1002/ccr3.3637GTPBP2 genehypotrichosismicrocephalymuscular dystrophy |
| spellingShingle | Isa Abdi Rad Ali Vahabi Elinaz Akbariazar A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis Clinical Case Reports GTPBP2 gene hypotrichosis microcephaly muscular dystrophy |
| title | A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis |
| title_full | A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis |
| title_fullStr | A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis |
| title_full_unstemmed | A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis |
| title_short | A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis |
| title_sort | novel gtpbp2 splicing mutation in two siblings affected with microcephaly generalized muscular atrophy and hypotrichosis |
| topic | GTPBP2 gene hypotrichosis microcephaly muscular dystrophy |
| url | https://doi.org/10.1002/ccr3.3637 |
| work_keys_str_mv | AT isaabdirad anovelgtpbp2splicingmutationintwosiblingsaffectedwithmicrocephalygeneralizedmuscularatrophyandhypotrichosis AT alivahabi anovelgtpbp2splicingmutationintwosiblingsaffectedwithmicrocephalygeneralizedmuscularatrophyandhypotrichosis AT elinazakbariazar anovelgtpbp2splicingmutationintwosiblingsaffectedwithmicrocephalygeneralizedmuscularatrophyandhypotrichosis AT isaabdirad novelgtpbp2splicingmutationintwosiblingsaffectedwithmicrocephalygeneralizedmuscularatrophyandhypotrichosis AT alivahabi novelgtpbp2splicingmutationintwosiblingsaffectedwithmicrocephalygeneralizedmuscularatrophyandhypotrichosis AT elinazakbariazar novelgtpbp2splicingmutationintwosiblingsaffectedwithmicrocephalygeneralizedmuscularatrophyandhypotrichosis |