A clinical-pathogenetic approach on associated anomalies and chromosomal defects supports novel candidate critical regions and genes for gastroschisis

Salinas Torres, Víctor Michael y Salinas Torres, Rafael A. y Cerda Flores, Ricardo M. y Gallardo Blanco, Hugo L. y Martinez de Villarreal, Laura E. (2018) A clinical-pathogenetic approach on associated anomalies and chromosomal defects supports novel candidate critical regions and genes for gastroschisis. Pediatric Surgery International, 34 (9). pp. 931-943. ISSN 0179-0358, 1437-9813

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URL o página oficial: http://link.springer.com/10.1007/s00383-018-4331-4

Resumen

Background Gastroschisis has been assumed to have a low rate of syndromic and primary malformations. We aimed to systematically review and explore the frequency and type of malformations/chromosomal syndromes and to identify significant biological/genetic roles in gastroschisis. Methods Population-based, gastroschisis-associated anomalies/chromosomal defects published 1950-2018 ({PubMed}/{MEDLINE}) were independently searched by two reviewers. Associated anomalies/chromosomal defects and selected clinical characteristics were subdivided and pooled by race, system/region, isolated, and associated cases (descriptive analysis and chi-square test were performed). Critical regions/genes from representative chromosomal syndromes including an enrichment analysis using Gene Ontology Consortium/Panther Classification System databases were explored. Fisher's exact test with False Discovery Rate multiple test correction was performed. Results Sixty-eight articles and 18525 cases as a base were identified (prevalence of 17.9 and 3\% for associated anomalies/ chromosomal defects, respectively). There were 3596 associated anomalies, prevailing those cardiovascular (23.3\%) and digestive (20.3\%). Co-occurring anomalies were associated with male, female, American Indian, Caucasian, prenatally diagnosed, chromosomal defects, and mortality (P{\textless}0.00001). Gene clusters on 21q22.11 and 21q22.3 ({KRTAP}), 18q21.33 ({SERPINB}), 18q22.1 ({CDH}7, {CDH}19), 13q12.3 ({FLT}1), 13q22.1 ({KLF}5), 13q22.3 ({EDNRB}), and 13q34 ({COL}4A1, {COL}4A2, F7, F10) were significantly related to biological processes: blood pressure regulation and/or vessel integrity, angiogenesis, coagulation, cell-cell and/or cell-matrix adhesion, dermis integrity, and wound healing (P{\textless}0.05). Conclusions Our findings suggest that gastroschisis may result from the interaction of several chromosomal regions in an additive manner as a pool of candidate genes were identified from critical regions supporting a role for vascular disruption, thrombosis, and mesodermal deficiency in the pathogenesis of gastroschisis.

Tipo de elemento:

Article

Palabras claves no controlados:

Chromosomes, Gastroschisis, Genes, Genetics, Population based

Materias:

CONACYT > Medicina y Ciencias de la Salud

Divisiones:

Medicina

Usuario depositante:

Dr.C. Hugo Gallardo Blanco

Creadores:

Creador	Email	ORCID
Salinas Torres, Víctor Michael	NO ESPECIFICADO	NO ESPECIFICADO
Salinas Torres, Rafael A.	NO ESPECIFICADO	NO ESPECIFICADO
Cerda Flores, Ricardo M.	NO ESPECIFICADO	NO ESPECIFICADO
Gallardo Blanco, Hugo L.	hugo.gallardobl@uanl.edu.mx	orcid.org/0000-0002-7816-4967
Martinez de Villarreal, Laura E.	NO ESPECIFICADO	NO ESPECIFICADO