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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review

Full text
Author(s):
Spineli-Silva, Samira [1] ; Bispo, Luciana M. [1] ; Gil-da-Silva-Lopes, Vera L. [1] ; Vieira, Tarsis P. [1]
Total Authors: 4
Affiliation:
[1] Univ Estadual Campinas, UNICAMP, Fac Med Sci, Dept Med Genet, Campinas, SP - Brazil
Total Affiliations: 1
Document type: Review article
Source: EUROPEAN JOURNAL OF MEDICAL GENETICS; v. 61, n. 5, p. 262-268, MAY 2018.
Web of Science Citations: 5
Abstract

Craniofacial Microsomia (CFM) also known as Oculo-auriculo-vertebral Spectrum (OAVS) or Goldenhar Syndrome, presents wide phenotypic and etiological heterogeneity. It affects mainly the structures originated from the first and second pharyngeal arches. In addition, other major anomalies may also be found, including congenital heart diseases. In this study, we report a patient with distal deletion in the 22q11.2 region and a phenotype which resembles CFM. The proband is a girl, who presented bilateral preauricular tags, left auditory canal stenosis, malar hypoplasia, cleft lip and palate, mild asymmetry of soft tissue in face, congenital heart disease, intestinal atresia, annular pancreas and hydronephrosis. The genomic imbalances investigation by Multiplex Ligation-dependent Probe Amplification (MLPA) and Chromosomal Microarray Analysis (CMA) revealed a distal deletion of 1,048 kb at 22q11.2 encompassing the region from Low Copy Repeats (LCRs) D to E. We did review of the literature and genotype-phenotype correlation. This is the sixth case of distal 22q11.2 deletion resembling CFM and the second encompassing the region between LCRs D to E. All cases share some phenotypic signs, such as preauricular tags, facial asymmetry, cleft lip and palate, and congenital heart diseases. Candidate genes in this region have been studied by having an important role in pharyngeal arches developmental and in congenital heart diseases, such as HIC2, YPEL1and MAPK1/ERK2. This case corroborates the phenotypic similarity between 22q11.2 distal deletion and CFM/OAVS. It also contributes to genotype-phenotype correlation and reinforces that candidate genes for CFM, in the 22q11.2 region, might be located between LCRs D and E. (AU)

FAPESP's process: 12/51799-6 - Consolidation of a multicentric strategy in genetics for database and diagnostic on orofacial clefts
Grantee:Vera Lúcia Gil da Silva Lopes
Support Opportunities: Research Grants - Research in Public Policies for the National Health Care System (PP-SUS)