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7p15缺失作为手足生殖器综合征的病因：一例病例报告、文献综述及该表型最小区域的提议

7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype.

作者信息

Yokoyama Emiy, Smith-Pellegrin Dennise Lesley, Sánchez Silvia, Molina Bertha, Rodríguez Alfredo, Juárez Rocío, Lieberman Esther, Avila Silvia, Castrillo José Luis, Del Castillo Victoria, Frías Sara

机构信息

Departamento de Genética Humana, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C, Colonia Insurgentes Cuicuilco, Coyoacán, Ciudad de México, CDMX, Mexico.

Laboratorio de Citogenética, Departamento de Investigación en Genética Humana. Instituto Nacional de Pediatría, Avenida IMAN no. 1, Torre de Investigación, Colonia Insurgentes Cuicuilco, Coyoacán, Ciudad de México, CDMX, Mexico.

出版信息

Mol Cytogenet. 2017 Nov 15;10:42. doi: 10.1186/s13039-017-0345-1. eCollection 2017.

DOI:10.1186/s13039-017-0345-1
PMID:29177010
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5688765/
Abstract

BACKGROUND

Hand-foot-genital syndrome (HFGS) is a rare condition characterized by congenital malformations in the limbs and genitourinary tract. Generally, this syndrome occurs due to point mutations that cause loss of function of the gene, which is located on 7p15; however, there are some patients with HFGS caused by interstitial deletions in this region.

CASE PRESENTATION

We describe a pediatric Mexican patient who came to the Medical Genetics Department at the National Institute of Pediatrics because he presented with genital, hand and feet anomalies, facial dysmorphisms, and learning difficulties. Array CGH reported a 12.7 Mb deletion that includes .

CONCLUSIONS

We compared our patient with cases of HFGS reported in the literature caused by a microdeletion; we found a minimum shared region in 7p15.2. By analyzing the phenotype in these patients, we suggest that microdeletions in this region should be investigated in all patients with clinical characteristics of HFGS who also present with dysplastic ears, mainly low-set implantation with a prominent antihelix, as well as a low nasal bridge and long philtrum.

摘要

背景

手足生殖器综合征（HFGS）是一种罕见疾病，其特征为四肢和泌尿生殖道的先天性畸形。一般来说，该综合征是由位于7p15的基因发生功能丧失的点突变引起的；然而，也有一些HFGS患者是由该区域的间质缺失导致的。

病例报告

我们描述了一名墨西哥儿科患者，他因生殖器、手和足部异常、面部畸形及学习困难来到国立儿科学研究所医学遗传学部门。阵列比较基因组杂交（Array CGH）报告了一个12.7 Mb的缺失，其中包括……

结论

我们将我们的患者与文献中报道的由微缺失引起的HFGS病例进行了比较；我们在7p15.2中发现了一个最小共享区域。通过分析这些患者的表型，我们建议，对于所有具有HFGS临床特征且伴有发育异常耳朵（主要是低位植入且对耳轮突出）、低鼻梁和长人中的患者，都应调查该区域的微缺失情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/249b/5688765/a6b644022891/13039_2017_345_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/249b/5688765/5551da694c04/13039_2017_345_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/249b/5688765/f6dd6773b1c9/13039_2017_345_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/249b/5688765/3bc31302afed/13039_2017_345_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/249b/5688765/e912ad77fde4/13039_2017_345_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/249b/5688765/2019d6e3d9b8/13039_2017_345_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/249b/5688765/a6b644022891/13039_2017_345_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/249b/5688765/5551da694c04/13039_2017_345_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/249b/5688765/f6dd6773b1c9/13039_2017_345_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/249b/5688765/3bc31302afed/13039_2017_345_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/249b/5688765/e912ad77fde4/13039_2017_345_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/249b/5688765/2019d6e3d9b8/13039_2017_345_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/249b/5688765/a6b644022891/13039_2017_345_Fig6_HTML.jpg

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本文引用的文献

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2
A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome.利用诊断性全基因组测序在一名患有手足生殖器综合征的患者中以单核苷酸分辨率定义的7号染色体臂间倒位。
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Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1.双重基因诊断：HOXA13和NRXN1基因新发突变导致的非典型手足生殖器综合征及发育迟缓
Am J Med Genet A. 2016 Mar;170(3):717-24. doi: 10.1002/ajmg.a.37478. Epub 2015 Nov 21.
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Understanding the molecular mechanisms of human microtia via a pig model of HOXA1 syndrome.通过HOXA1综合征的猪模型了解人类小耳畸形的分子机制。
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