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

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

doi:10.1186/s13039-017-0345-1

Emiy Yokoyama, José Luis Castrillo + Show 9 more

Open Access

https://doi.org/10.1186/s13039-017-0345-1

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Journal: Molecular Cytogenetics	Publication Date: Nov 15, 2017
Citations: 3	License type: open-access

Affiliation: Instituto Nacional de Pediatria

Abstract

BackgroundHand-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 HOXA13 gene, which is located on 7p15; however, there are some patients with HFGS caused by interstitial deletions in this region.Case presentationWe 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 HOXA13.ConclusionsWe 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.

Highlights

Hand-foot-genital syndrome (HFGS) is a rare condition characterized by congenital malformations in the limbs and genitourinary tract
We describe a Mexican patient with HFGS caused by a 12.7 Mb deletion on chromosome 7, ranging from p15.3 to p14.3, including the HOXA13 gene
A global developmental delay was detected, which was most profound in the area of language. He presented with short stature, microcephaly, facial dysmorphisms, such as facial asymmetry, midface hypoplasia, a broad and prominent forehead, mild hypertelorism, strabismus, a broad nasal bridge, a long and smooth philtrum, a thin upper lip, a high palate (Fig. 1a), and low-set ears with a prominent antihelix (Fig. 1b)

Summary

Introduction

Hand-foot-genital syndrome (HFGS) is a rare condition characterized by congenital malformations in the limbs and genitourinary tract. We describe a Mexican patient with HFGS caused by a 12.7 Mb deletion on chromosome 7, ranging from p15.3 to p14.3, including the HOXA13 gene.

Results

Conclusion