Prenatal diagnosis and molecular cytogenetic analyses of a paternal inherited deletion of 1q23.3 encompassing PBX1 gene.

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY Molecular Cytogenetics Pub Date : 2022-12-21 DOI:10.1186/s13039-022-00632-y

Man Luo, Xia Gu, Ting Zhou, Chaoli Chen

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Abstract

Background: Patients with deletions involving the long arm of chromosome 1 are rare. The PBX1 gene is located on chromosome 1q23.3. PBX1 encodes a transcription factor which promotes protein-protein interaction and plays a crucial role in several developmental processes. PBX1 haploinsufficiency had been reported to lead syndromic congenital anomalies of kidney and urinary tract (CAKUT) in humans.

Case presentation: In this research, a 24-year-old woman (gravida 1, para 0) underwent amniocentesis at 22 weeks' gestation because of a horseshoe kidney of the fetus on prenatal ultrasound.

Results: Chromosomal microarray analysis (CMA) from this family revealed a 1.14 Mb paternal inherited deletion on chromosome 1q23.3, spanning from position 163,620,000 to 164,760,000 (hg19). Trio whole-exome sequencing (WES) showed heterozygous deletions in exons 1-2 of the PBX1 in fetal and paternal samples. At the 3-year follow-up, the baby did not have an abnormal phenotype except a horseshoe kidney.

Conclusion: We provide a detailed description of the phenotype in a family with paternal inherited deletion of 1q23.3 encompassing exons 1-2 of the PBX1 gene. Combination of karyotype analysis, CMA, WES, prenatal ultrasound and genetic counseling is helpful for the prenatal diagnosis of chromosomal microdeletions/microduplications.

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父系遗传性 1q23.3 缺失（包括 PBX1 基因）的产前诊断和分子细胞遗传学分析。

背景：涉及 1 号染色体长臂缺失的患者非常罕见。PBX1 基因位于染色体 1q23.3。PBX1 编码一种转录因子，它能促进蛋白质与蛋白质之间的相互作用，并在多个发育过程中发挥关键作用。据报道，PBX1单倍体缺乏症可导致人类肾脏和泌尿道先天性异常综合征（CAKUT）：本研究中，一名 24 岁女性（孕酮 1，para 0）因产前超声检查发现胎儿马蹄肾，在妊娠 22 周时接受了羊膜腔穿刺术：该家族的染色体微阵列分析（CMA）显示，1q23.3染色体上有一个1.14 Mb的父系遗传性缺失，从163,620,000位跨越到164,760,000位（hg19）。三重全外显子测序（WES）显示，胎儿和父亲样本中的PBX1的1-2外显子存在杂合性缺失。在 3 年的随访中，除马蹄肾外，婴儿没有异常表型：我们详细描述了一个父系遗传性 PBX1 基因 1q23.3 外显子 1-2 缺失家族的表型。结合核型分析、CMA、WES、产前超声和遗传咨询有助于染色体微缺失/微重复的产前诊断。

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来源期刊

Molecular Cytogenetics GENETICS & HEREDITY-

CiteScore

2.60

自引率

7.70%

发文量

审稿时长

>12 weeks

期刊介绍： Molecular Cytogenetics encompasses all aspects of chromosome biology and the application of molecular cytogenetic techniques in all areas of biology and medicine, including structural and functional organization of the chromosome and nucleus, genome variation, expression and evolution, chromosome abnormalities and genomic variations in medical genetics and tumor genetics. Molecular Cytogenetics primarily defines a large set of the techniques that operate either with the entire genome or with specific targeted DNA sequences. Topical areas include, but are not limited to: -Structural and functional organization of chromosome and nucleus- Genome variation, expression and evolution- Animal and plant molecular cytogenetics and genomics- Chromosome abnormalities and genomic variations in clinical genetics- Applications in preimplantation, pre- and post-natal diagnosis- Applications in the central nervous system, cancer and haematology research- Previously unreported applications of molecular cytogenetic techniques- Development of new techniques or significant enhancements to established techniques. This journal is a source for numerous scientists all over the world, who wish to improve or introduce molecular cytogenetic techniques into their practice.