7p21.3 Together With a 12p13.32 Deletion in a Patient With Microcephaly-Does 12p13.32 Locus Possibly Comprises a Candidate Gene Region for Microcephaly?

• Published in: Frontiers in molecular neuroscience Vol. 14; p. 613091
• Main Authors: Rincic, Martina, Rados, Milan, Kopic, Janja, Krsnik, Zeljka, Liehr, Thomas
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Research Foundation 04-02-2021; Frontiers Media S.A
• Subjects: Age; Animal models; array comparative genetic hybridization (aCGH); Brain; Chromosome 12; Chromosomes; Data analysis; Deoxyribonucleic acid; DNA; Gene deletion; Gene expression; Genomes; Genomics; Informatics; intellectual disability—genetics; magnetic resonace imaging (MRI); Magnetic resonance imaging; Manufacturers; Microcephaly; Neuroscience; PRMT8; Software; Volumetric analysis; United States > US; microcephaly; PRMT8; array comparative genetic hybridization (aCGH); intellectual disability—genetics; magnetic resonace imaging (MRI)
• ISSN: 1662-5099; 1662-5099
• DOI: 10.3389/fnmol.2021.613091

Furthermore, based on a literature search on gene functions, expression patters, and phenotypic characteristics of published cases we have selected PRMT8 as a promising candidate gene from common deleted region for further immunohistochemical (IHC) investigations on human post-mortem brain tissue. Genes with high pLI scores (pLI ≥ 0.9) are extremely LoF intolerant, whereby genes with low pLI scores (pLI ≤ 0.1) are LoF tolerant; 4) Mouse Genome Informatics (MGI) database was screened for fitting mouse models; 5) PubMed, ClinVar, Decipher, GeneCards and Genomic Variants in Human Genome (Build GRCh37: Feb. 2009, hg19) (Gold Standard) databases were searched for comparable literature data. According to literature data on PRMT8 expression pattern coronal sections were scanned and examine in detail. According to medical documentation, stereotypic hand movements present as continuous movements toward the face could not be controlled by any medication.