A familial chromosome 4p16.3 terminal microdeletion that does not cause Wolf-Hirschhorn (4p-) syndrome.

IF 2.4 4区 生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY
Mayowa Azeez Osundiji, Eva Kahn, Brendan Lanpher
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引用次数: 0

Abstract

Chromosome 4p16.3 microdeletions are known to cause Wolf-Hirschhorn syndrome (WHS), which is characterized by a distinct craniofacial gestalt and multiple congenital malformations. The 4p16.3 region encompasses WHS critical region 1 (WHSCR1) and 2 (WHSCR2). The WHSCR contains several genes that have been implicated in the WHS phenotype including: WHS candidate 1 [WHSC1 (aka NSD2, OMIM 602952)], WHS candidate 2 [WHSC2 (aka NELFA, OMIM 606026)], and LETM1 (OMIM 604407). Although several patients harboring 4p16.3 microdeletions that are associated with WHS phenotypes have been reported, the precise molecular underpinnings of WHS are subjects of active investigations. The potential role(s) of genes within the 4p16.3 are increasingly being investigated. Here we report a novel 4p16.3 terminal microdeletion that is not associated with the characteristic WHS phenotype. We studied Individual A (7-months-old female) and her father, Individual B (27-year-old), who both carry a terminal 4p16.3 microdeletion (about 555 kb) that is distal to the WHSCR1 and WHSCR2, and does not include WHSC1, WHSC2, or LETM1. Overall, our findings expand the phenotypic spectrum associated with 4p16.3 microdeletions and support the previous observations that, in some individuals, microdeletions within 4p16.3 region may not be sufficient to cause WHS.

不会导致沃尔夫-赫希霍恩(4p-)综合征的家族性染色体 4p16.3 末端微缺失。
已知染色体 4p16.3 微缺失可导致沃尔夫-赫希霍恩综合征(Wolf-Hirschhorn Syndrome,WHS),该综合征以独特的颅面形态和多种先天畸形为特征。4p16.3 区域包括沃尔夫-赫希霍恩综合征临界区 1(WHSCR1)和临界区 2(WHSCR2)。WHSCR 包含几个与 WHS 表型有关的基因,包括WHS 候选基因 1 [WHSC1(又名 NSD2,OMIM 602952)]、WHS 候选基因 2 [WHSC2(又名 NELFA,OMIM 606026)]和 LETM1(OMIM 604407)。虽然已有一些携带与 WHS 表型相关的 4p16.3 微缺失的患者报道,但 WHS 的确切分子基础仍是积极研究的主题。对 4p16.3 中基因的潜在作用的研究也越来越多。在这里,我们报告了一种新型的 4p16.3 末端微缺失,它与 WHS 的特征性表型无关。我们研究了个体 A(7 个月大的女性)和她的父亲个体 B(27 岁),他们都携带 4p16.3 末端微缺失(约 555 kb),该缺失位于 WHSCR1 和 WHSCR2 的远端,不包括 WHSC1、WHSC2 或 LETM1。总之,我们的研究结果扩大了与 4p16.3 微缺失相关的表型谱,并支持了之前的观察结果,即在某些个体中,4p16.3 区域内的微缺失可能不足以导致 WHS。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Chromosome Research
Chromosome Research 生物-生化与分子生物学
CiteScore
4.70
自引率
3.80%
发文量
31
审稿时长
1 months
期刊介绍: Chromosome Research publishes manuscripts from work based on all organisms and encourages submissions in the following areas including, but not limited, to: · Chromosomes and their linkage to diseases; · Chromosome organization within the nucleus; · Chromatin biology (transcription, non-coding RNA, etc); · Chromosome structure, function and mechanics; · Chromosome and DNA repair; · Epigenetic chromosomal functions (centromeres, telomeres, replication, imprinting, dosage compensation, sex determination, chromosome remodeling); · Architectural/epigenomic organization of the genome; · Functional annotation of the genome; · Functional and comparative genomics in plants and animals; · Karyology studies that help resolve difficult taxonomic problems or that provide clues to fundamental mechanisms of genome and karyotype evolution in plants and animals; · Mitosis and Meiosis; · Cancer cytogenomics.
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