Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome
BackgroundKBG syndrome (KBGS, OMIM: 148050) is a rare genetic disorder characterized by macrodontia, short stature, skeletal abnormalities, and neurological manifestations. The objective of this study is to investigate a case of KBG syndrome caused by a novel frameshift mutation in ANKRD11.Methods a...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2024.1439905/full |
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| author | Qing Shao Qiang Jiang Yuqi Luo Yimei Meng Guoyu Tian Xiao Yin |
| author_facet | Qing Shao Qiang Jiang Yuqi Luo Yimei Meng Guoyu Tian Xiao Yin |
| author_sort | Qing Shao |
| collection | DOAJ |
| description | BackgroundKBG syndrome (KBGS, OMIM: 148050) is a rare genetic disorder characterized by macrodontia, short stature, skeletal abnormalities, and neurological manifestations. The objective of this study is to investigate a case of KBG syndrome caused by a novel frameshift mutation in ANKRD11.Methods and resultsWe present the case of an 18-year-old Chinese male exhibiting characteristic features including a triangular face, micrognathia, hypertelorism, macrodontia, bushy eyebrows, prominent ears, short stature, low hairline, delayed cognitive development, and scoliosis. Whole exome sequencing identified a novel frameshift variant in the ANKRD11 gene which ultimately led to the diagnosis of KBG syndrome.ConclusionIn this study we have identified a previously unreported frameshift variant (NM_013275.6:c.2589dup) in ANKRD11 that causes KBG syndrome. This finding expands both the molecular and clinical spectrum of this rare genetic disease. |
| format | Article |
| id | doaj-art-1d70d00ab91c4d28a8763b7f8e6ce830 |
| institution | Kabale University |
| issn | 1664-8021 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj-art-1d70d00ab91c4d28a8763b7f8e6ce8302025-01-03T06:47:07ZengFrontiers Media S.A.Frontiers in Genetics1664-80212025-01-011510.3389/fgene.2024.14399051439905Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndromeQing ShaoQiang JiangYuqi LuoYimei MengGuoyu TianXiao YinBackgroundKBG syndrome (KBGS, OMIM: 148050) is a rare genetic disorder characterized by macrodontia, short stature, skeletal abnormalities, and neurological manifestations. The objective of this study is to investigate a case of KBG syndrome caused by a novel frameshift mutation in ANKRD11.Methods and resultsWe present the case of an 18-year-old Chinese male exhibiting characteristic features including a triangular face, micrognathia, hypertelorism, macrodontia, bushy eyebrows, prominent ears, short stature, low hairline, delayed cognitive development, and scoliosis. Whole exome sequencing identified a novel frameshift variant in the ANKRD11 gene which ultimately led to the diagnosis of KBG syndrome.ConclusionIn this study we have identified a previously unreported frameshift variant (NM_013275.6:c.2589dup) in ANKRD11 that causes KBG syndrome. This finding expands both the molecular and clinical spectrum of this rare genetic disease.https://www.frontiersin.org/articles/10.3389/fgene.2024.1439905/fullKBG syndromeANKRD11frameshift variationnoonansyndromeRRAS2 |
| spellingShingle | Qing Shao Qiang Jiang Yuqi Luo Yimei Meng Guoyu Tian Xiao Yin Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome Frontiers in Genetics KBG syndrome ANKRD11 frameshift variation noonansyndrome RRAS2 |
| title | Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome |
| title_full | Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome |
| title_fullStr | Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome |
| title_full_unstemmed | Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome |
| title_short | Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome |
| title_sort | identification of a novel frameshift variation in ankrd11 a case report of kbg syndrome |
| topic | KBG syndrome ANKRD11 frameshift variation noonansyndrome RRAS2 |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2024.1439905/full |
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