Prenatal diagnosis of ALPL gene mutations in recurrent fetal skeletal dysplasia
Objective: One multiparity women had recurrent pregnancies of skeletal dysplasia. The karyotype and array-comparative genomic hybridization were unremarkable. Thus, trio whole exome sequencings were suggested. Case report: The ALPL gene mutations were identified. Maternal heterozygous deletion on Ch...
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| Format: | Article |
| Language: | English |
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Elsevier
2022-11-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455922002923 |
| _version_ | 1811179833871302656 |
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| author | Shu-Han You Chia-Lung Tsai Chih-Peng Lin Shuenn-Dyh Chang Yao-Lung Chang |
| author_facet | Shu-Han You Chia-Lung Tsai Chih-Peng Lin Shuenn-Dyh Chang Yao-Lung Chang |
| author_sort | Shu-Han You |
| collection | DOAJ |
| description | Objective: One multiparity women had recurrent pregnancies of skeletal dysplasia. The karyotype and array-comparative genomic hybridization were unremarkable. Thus, trio whole exome sequencings were suggested. Case report: The ALPL gene mutations were identified. Maternal heterozygous deletion on Chr1: 21880592 (GRCh37) TA->T, paternal heterozygous insertion on Chr1 21894597, 21894598 (GRCh37) G->GC, T->TAA, and the compound heterozygous mutation were noted on her third pregnancy. The prenatal ultrasound findings and ALPL variants were compatible with the diagnosis of hypophosphatasia. Sanger sequencings were performed and found their normal phenotype daughter carried the same heterozygous mutation with her mother. The mother was then incidentally found her fourth pregnancy; unfortunately, the fetus was prenatally diagnosed of hypophosphatasia with the compound heterozygous mutations. Conclusion: The whole exome sequencing could assist to find the disease-causing variants, which may not be identified through routine prenatal diagnosis. With the precise diagnosis, we could provide the counseling for prenatal or pre-implantation diagnosis. |
| first_indexed | 2024-04-11T06:40:10Z |
| format | Article |
| id | doaj.art-34e8a2e2c07e4a92acecd198888764ce |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-04-11T06:40:10Z |
| publishDate | 2022-11-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-34e8a2e2c07e4a92acecd198888764ce2022-12-22T04:39:33ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592022-11-0161610651068Prenatal diagnosis of ALPL gene mutations in recurrent fetal skeletal dysplasiaShu-Han You0Chia-Lung Tsai1Chih-Peng Lin2Shuenn-Dyh Chang3Yao-Lung Chang4Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-kou, Tao-Yuan, Taiwan; Corresponding author. Department of Obstetrics and Gynecology, Chang-Gung Memorial Hospital, Linkou, Taiwan.Genomic Medicine Research Core Laboratory, Chang Gung Memorial Hospital, Tao-Yuan, TaiwanDepartment of Biotechnology, Min-Chuan University, Tao-Yuan, Taiwan; Bioinformatics Division, Yourgene Bioscience Inc., New Taipei City, TaiwanDepartment of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-kou, Tao-Yuan, TaiwanDepartment of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-kou, Tao-Yuan, TaiwanObjective: One multiparity women had recurrent pregnancies of skeletal dysplasia. The karyotype and array-comparative genomic hybridization were unremarkable. Thus, trio whole exome sequencings were suggested. Case report: The ALPL gene mutations were identified. Maternal heterozygous deletion on Chr1: 21880592 (GRCh37) TA->T, paternal heterozygous insertion on Chr1 21894597, 21894598 (GRCh37) G->GC, T->TAA, and the compound heterozygous mutation were noted on her third pregnancy. The prenatal ultrasound findings and ALPL variants were compatible with the diagnosis of hypophosphatasia. Sanger sequencings were performed and found their normal phenotype daughter carried the same heterozygous mutation with her mother. The mother was then incidentally found her fourth pregnancy; unfortunately, the fetus was prenatally diagnosed of hypophosphatasia with the compound heterozygous mutations. Conclusion: The whole exome sequencing could assist to find the disease-causing variants, which may not be identified through routine prenatal diagnosis. With the precise diagnosis, we could provide the counseling for prenatal or pre-implantation diagnosis.http://www.sciencedirect.com/science/article/pii/S1028455922002923ALPL geneHypophosphatasiaSkeletal dysplasiaRecurrent fetal anomalyExome sequencing |
| spellingShingle | Shu-Han You Chia-Lung Tsai Chih-Peng Lin Shuenn-Dyh Chang Yao-Lung Chang Prenatal diagnosis of ALPL gene mutations in recurrent fetal skeletal dysplasia Taiwanese Journal of Obstetrics & Gynecology ALPL gene Hypophosphatasia Skeletal dysplasia Recurrent fetal anomaly Exome sequencing |
| title | Prenatal diagnosis of ALPL gene mutations in recurrent fetal skeletal dysplasia |
| title_full | Prenatal diagnosis of ALPL gene mutations in recurrent fetal skeletal dysplasia |
| title_fullStr | Prenatal diagnosis of ALPL gene mutations in recurrent fetal skeletal dysplasia |
| title_full_unstemmed | Prenatal diagnosis of ALPL gene mutations in recurrent fetal skeletal dysplasia |
| title_short | Prenatal diagnosis of ALPL gene mutations in recurrent fetal skeletal dysplasia |
| title_sort | prenatal diagnosis of alpl gene mutations in recurrent fetal skeletal dysplasia |
| topic | ALPL gene Hypophosphatasia Skeletal dysplasia Recurrent fetal anomaly Exome sequencing |
| url | http://www.sciencedirect.com/science/article/pii/S1028455922002923 |
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