Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis
Asparagine synthetase deficiency (ASNSD) is a rare congenital disorder characterized by severe progressive microcephaly, global developmental delay, spastic quadriplegia, and refractory seizures. ASNSD is caused by variations of the ASNS gene. The present study showed a Chinese family with a fetus s...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-10-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2023.1273789/full |
| _version_ | 1827794441806544896 |
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| author | Linyan Zhu Linyan Zhu Yixi Sun Yixi Sun Yuqing Xu Yuqing Xu Pengzhen Jin Pengzhen Jin Huiqing Ding Minyue Dong Minyue Dong |
| author_facet | Linyan Zhu Linyan Zhu Yixi Sun Yixi Sun Yuqing Xu Yuqing Xu Pengzhen Jin Pengzhen Jin Huiqing Ding Minyue Dong Minyue Dong |
| author_sort | Linyan Zhu |
| collection | DOAJ |
| description | Asparagine synthetase deficiency (ASNSD) is a rare congenital disorder characterized by severe progressive microcephaly, global developmental delay, spastic quadriplegia, and refractory seizures. ASNSD is caused by variations of the ASNS gene. The present study showed a Chinese family with a fetus suffering microcephaly. Whole-exome sequencing and Sanger sequencing were used to identify the disease-associated genetic variants. Compound heterozygous variants c.97C>T p. (R33C) and c.1031-2_1033del were identified in the ASNS gene and the variants were inherited from the parents. The mutation site c.97C>T was highly conserved across a wide range of species and predicted to alter the local electrostatic potential. The variant c.1031-2_1033del was classified pathogenic. However, there is no case report of prenatal diagnosis of ASNSD. This is the first description of fetal compound mutations in the ASNS gene leading to ASNSD, which expanded the spectrum of ASNSD. |
| first_indexed | 2024-03-11T18:33:47Z |
| format | Article |
| id | doaj.art-3fdb54dacd23438fa6de7a09566c4de7 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-03-11T18:33:47Z |
| publishDate | 2023-10-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-3fdb54dacd23438fa6de7a09566c4de72023-10-13T05:47:52ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602023-10-011110.3389/fped.2023.12737891273789Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosisLinyan Zhu0Linyan Zhu1Yixi Sun2Yixi Sun3Yuqing Xu4Yuqing Xu5Pengzhen Jin6Pengzhen Jin7Huiqing Ding8Minyue Dong9Minyue Dong10Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Ningbo University, Ningbo, ChinaWomen’s Hospital, School of Medicine, Zhejiang University, Hangzhou, ChinaWomen’s Hospital, School of Medicine, Zhejiang University, Hangzhou, ChinaKey Laboratory of Reproductive Genetics, Ministry of Education (Zhejiang University), Hangzhou, ChinaWomen’s Hospital, School of Medicine, Zhejiang University, Hangzhou, ChinaKey Laboratory of Reproductive Genetics, Ministry of Education (Zhejiang University), Hangzhou, ChinaWomen’s Hospital, School of Medicine, Zhejiang University, Hangzhou, ChinaKey Laboratory of Reproductive Genetics, Ministry of Education (Zhejiang University), Hangzhou, ChinaDepartment of Obstetrics and Gynaecology, The First Affiliated Hospital of Ningbo University, Ningbo, ChinaWomen’s Hospital, School of Medicine, Zhejiang University, Hangzhou, ChinaKey Laboratory of Reproductive Genetics, Ministry of Education (Zhejiang University), Hangzhou, ChinaAsparagine synthetase deficiency (ASNSD) is a rare congenital disorder characterized by severe progressive microcephaly, global developmental delay, spastic quadriplegia, and refractory seizures. ASNSD is caused by variations of the ASNS gene. The present study showed a Chinese family with a fetus suffering microcephaly. Whole-exome sequencing and Sanger sequencing were used to identify the disease-associated genetic variants. Compound heterozygous variants c.97C>T p. (R33C) and c.1031-2_1033del were identified in the ASNS gene and the variants were inherited from the parents. The mutation site c.97C>T was highly conserved across a wide range of species and predicted to alter the local electrostatic potential. The variant c.1031-2_1033del was classified pathogenic. However, there is no case report of prenatal diagnosis of ASNSD. This is the first description of fetal compound mutations in the ASNS gene leading to ASNSD, which expanded the spectrum of ASNSD.https://www.frontiersin.org/articles/10.3389/fped.2023.1273789/fullASNSprenatal diagnosisasparagine synthetase deficiencywhole-exome sequencingcase report |
| spellingShingle | Linyan Zhu Linyan Zhu Yixi Sun Yixi Sun Yuqing Xu Yuqing Xu Pengzhen Jin Pengzhen Jin Huiqing Ding Minyue Dong Minyue Dong Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis Frontiers in Pediatrics ASNS prenatal diagnosis asparagine synthetase deficiency whole-exome sequencing case report |
| title | Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis |
| title_full | Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis |
| title_fullStr | Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis |
| title_full_unstemmed | Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis |
| title_short | Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis |
| title_sort | case report a compound heterozygous mutations in asns broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis |
| topic | ASNS prenatal diagnosis asparagine synthetase deficiency whole-exome sequencing case report |
| url | https://www.frontiersin.org/articles/10.3389/fped.2023.1273789/full |
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