母亲UPD（20）导致Mulchandani-Bhoj-Conlin综合征：罕见的新生儿TRPS1额外缺失病例

IF 1.7 4区生物学 Q3 GENETICS & HEREDITY

American Journal of Medical Genetics Part A Pub Date : 2025-09-18 DOI:10.1002/ajmg.a.64261

Jingyi Zhang, Xia Chen, Ming Chen, Shiyuan Wu, Fang Huang, Rui Pan, Gaoyan Chen

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引用次数: 0

摘要

Mulchandani-Bhoj-Conlin综合征是一种极其罕见的印迹疾病，由母体单亲20号染色体二体引起，主要表现为宫内生长受限、产后严重生长衰竭和喂养困难。在这里，我们报告了一个通过全外显子组测序和拷贝数变异分析被诊断为Mulchandani-Bhoj-Conlin综合征的新生儿，该分析还发现染色体8q23.3上有0.26 Mb的缺失，影响TRPS1基因，与毛鼻管综合征相关。我们描述这个婴儿的临床特征和遗传发现，目的是为了更好地理解这两种罕见疾病。

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Maternal UPD(20) Leading to Mulchandani-Bhoj-Conlin Syndrome: A Rare Neonatal Case With Additional TRPS1 Deletion.

Mulchandani-Bhoj-Conlin syndrome is an extremely rare imprinting disorder caused by maternal uniparental disomy of chromosome 20, primarily characterized by intrauterine growth restriction, severe postnatal growth failure, and feeding difficulties. Here, we report a neonate diagnosed with Mulchandani-Bhoj-Conlin syndrome via whole exome sequencing and copy number variation analysis, which also identified a 0.26 Mb deletion on chromosome 8q23.3 affecting the TRPS1 gene, associated with Trichorhinophalangeal syndrome. We describe the clinical features and genetic findings of this infant, with the aim of contributing to a better understanding of these two rare diseases.

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来源期刊

American Journal of Medical Genetics Part A 生物-遗传学

CiteScore

3.50

自引率

5.00%

发文量

432

审稿时长

2-4 weeks

期刊介绍： The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts: Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .