Genetic Study and Prenatal Diagnosis of a Family with Thrombocytopenia-Absent Radius (TAR) Syndrome

DING Li; HUANG Ying-zhi; QIAN Ye-qing; DONG Min-yue

doi:10.12182/20210760508

Volume 52 Issue 4

Jul. 2021

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JOURNAL OF SICHUAN UNIVERSITY (MEDICAL SCIENCES) > 2021 > 52(4): 711-715. > DOI: 10.12182/20210760508

DING Li, HUANG Ying-zhi, QIAN Ye-qing, et al. Genetic Study and Prenatal Diagnosis of a Family with Thrombocytopenia-Absent Radius (TAR) Syndrome[J]. Journal of Sichuan University (Medical Sciences), 2021, 52(4): 711-715. DOI: 10.12182/20210760508

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Genetic Study and Prenatal Diagnosis of a Family with Thrombocytopenia-Absent Radius (TAR) Syndrome

1.
Key Laboratory of Reproductive Genetics of the Ministry of Education, Department of Reproductive Genetics, Women’s Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China
2.
Department of Obstetrics and Gynecology, Hangzhou Hospital, Zhejiang Medical Health Group, Hangzhou 310022, China

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Corresponding author:
DONG Min-yue, E-mail: dongmy@zju.edu.cn
Received Date: October 08, 2020
Revised Date: June 13, 2021
Available Online: July 21, 2021
Published Date: July 19, 2021

Abstract

Abstract

Objective To analyze the potential genetic cause of thrombocytopenia-absent radius (TAR) syndrome in a family and provide prenatal diagnosis for them.
Methods Genetic mutation analysis of the sporadic family with TAR syndrome was performed with chromosome microarray analysis (CMA), quantitative polymerase chain reaction (qPCR) and Sanger sequencing. DNA samples were collected from 4 members of the family, including the proband, her parents and her sister. CMA, qPCR and Sanger sequencing were performed to determine the pathogenic mutation and prenatal diagnosis of the fetus was made accordingly.
Results The proband had a 378 kb genomic heterozygous deletion in 1q21.1, which contained RBM8A and other genes. c.-21G>A mutation was also found in the RBM8A of the proband. The above-mentioned microdeletion and mutation were inherited from the mother and father, respectively. Prenatal CMA suggested that the fetus carried a 378 kb microdeletion in 1q21.1, and DNA testing did not find c.-21G>A mutation.
Conclusion The heterozygous deletion in 1q21.1 and RBM8A: c.-21G>A is considered to be the genetic etiology of TAR syndrome in the family. The study provides information for subsequent family genetic counseling and prenatal diagnosis.
- RBM8A,
- Thrombocytopenia-absent radius (TAR) syndrome,
- 1q21.1 microdeletion

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Genetic Study and Prenatal Diagnosis of a Family with Thrombocytopenia-Absent Radius (TAR) Syndrome

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