Novel KMT5B variant associated with neurodevelopmental disorder in a Chinese family: A case report
Background: We report here the clinical and genetic features of KMT5B-related neurodevelopmental disorder caused by a novel heterozygous frameshift variant in KMT5B in a Chinese family. Case presentation: A 7-year-old Chinese boy with mild-to-moderate intellectual disability, significant language im...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-04-01
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| Series: | Heliyon |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844024047170 |
| _version_ | 1797242979563339776 |
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| author | Jiao Tong Xu Chen Xin Wang Shuai Men Yuan Liu Xun Sun Dongmei Yan Leilei Wang |
| author_facet | Jiao Tong Xu Chen Xin Wang Shuai Men Yuan Liu Xun Sun Dongmei Yan Leilei Wang |
| author_sort | Jiao Tong |
| collection | DOAJ |
| description | Background: We report here the clinical and genetic features of KMT5B-related neurodevelopmental disorder caused by a novel heterozygous frameshift variant in KMT5B in a Chinese family. Case presentation: A 7-year-old Chinese boy with mild-to-moderate intellectual disability, significant language impairment, motor disability, and coordination difficulties presented to our hospital because he “could not speak and did not look at others.” He was diagnosed with autism spectrum disorder previously owing to developmental delays in cognition, language expression, and understanding. The child also had variable nonspecific features including macrocephaly, wide button-hole space and nasal bridge, low ear, social behavior disorder, and foot deformities. Exome sequencing (ES) revealed that both the proband and his younger brother had inherited a novel heterozygous frameshift variant c.438_439ins[ASD; KT192064.1:1_310] of the KMT5B gene from their father. Bioinformatics analysis showed that the novel mutation affected the structure of the KMT5B pre-SET domain, mainly in the α-helix region. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, this type of variant was eventually determined to be likely pathogenic (PVS1+PM2_P). Conclusions: Our investigation expands the mutation spectrum of KMT5B to help us to better understand KMT5B-related neurodevelopmental disorder. |
| first_indexed | 2024-04-24T18:47:49Z |
| format | Article |
| id | doaj.art-c8eaa8ee29ff408192792420b5698e41 |
| institution | Directory Open Access Journal |
| issn | 2405-8440 |
| language | English |
| last_indexed | 2024-04-24T18:47:49Z |
| publishDate | 2024-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Heliyon |
| spelling | doaj.art-c8eaa8ee29ff408192792420b5698e412024-03-27T04:52:42ZengElsevierHeliyon2405-84402024-04-01107e28686Novel KMT5B variant associated with neurodevelopmental disorder in a Chinese family: A case reportJiao Tong0Xu Chen1Xin Wang2Shuai Men3Yuan Liu4Xun Sun5Dongmei Yan6Leilei Wang7Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu, ChinaLianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu, ChinaLianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu, ChinaLianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu, ChinaLianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu, ChinaLianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu, ChinaCorresponding author. NO. 9 Qindongmen Street, Haizhou District, Lianyungang, 222000, China.; Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu, ChinaCorresponding author. NO. 669 Qindongmen Street, Haizhou District, Lianyungang, 222000, China.; Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu, ChinaBackground: We report here the clinical and genetic features of KMT5B-related neurodevelopmental disorder caused by a novel heterozygous frameshift variant in KMT5B in a Chinese family. Case presentation: A 7-year-old Chinese boy with mild-to-moderate intellectual disability, significant language impairment, motor disability, and coordination difficulties presented to our hospital because he “could not speak and did not look at others.” He was diagnosed with autism spectrum disorder previously owing to developmental delays in cognition, language expression, and understanding. The child also had variable nonspecific features including macrocephaly, wide button-hole space and nasal bridge, low ear, social behavior disorder, and foot deformities. Exome sequencing (ES) revealed that both the proband and his younger brother had inherited a novel heterozygous frameshift variant c.438_439ins[ASD; KT192064.1:1_310] of the KMT5B gene from their father. Bioinformatics analysis showed that the novel mutation affected the structure of the KMT5B pre-SET domain, mainly in the α-helix region. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, this type of variant was eventually determined to be likely pathogenic (PVS1+PM2_P). Conclusions: Our investigation expands the mutation spectrum of KMT5B to help us to better understand KMT5B-related neurodevelopmental disorder.http://www.sciencedirect.com/science/article/pii/S2405844024047170KMT5BGene mutationExome sequencingNeurodevelopmental disorder |
| spellingShingle | Jiao Tong Xu Chen Xin Wang Shuai Men Yuan Liu Xun Sun Dongmei Yan Leilei Wang Novel KMT5B variant associated with neurodevelopmental disorder in a Chinese family: A case report Heliyon KMT5B Gene mutation Exome sequencing Neurodevelopmental disorder |
| title | Novel KMT5B variant associated with neurodevelopmental disorder in a Chinese family: A case report |
| title_full | Novel KMT5B variant associated with neurodevelopmental disorder in a Chinese family: A case report |
| title_fullStr | Novel KMT5B variant associated with neurodevelopmental disorder in a Chinese family: A case report |
| title_full_unstemmed | Novel KMT5B variant associated with neurodevelopmental disorder in a Chinese family: A case report |
| title_short | Novel KMT5B variant associated with neurodevelopmental disorder in a Chinese family: A case report |
| title_sort | novel kmt5b variant associated with neurodevelopmental disorder in a chinese family a case report |
| topic | KMT5B Gene mutation Exome sequencing Neurodevelopmental disorder |
| url | http://www.sciencedirect.com/science/article/pii/S2405844024047170 |
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