Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

• Published in: Molecular cytogenetics Vol. 8; no. 1; p. 39
• Main Authors: Choucair, Nancy, Mignon-Ravix, Cecile, Cacciagli, Pierre, Abou Ghoch, Joelle, Fawaz, Ali, Mégarbané, André, Villard, Laurent, Chouery, Eliane
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 16.06.2015; BioMed Central
• Subjects: Analysis; Case Report; Case studies; Genes; Genetic aspects; Genetic research; Genetic transcription; Genetics; Genomics; Hearing loss; Human genetics; Life Sciences; Phosphatases; Tyrosine; Intellectual disability; Protein tyrosine phosphatase receptor delta; Monosomy 9p; Hearing loss; Trigonocephaly; CELL-ADHESION MOLECULE; DELTA; PROTEIN-TYROSINE PHOSPHATASES; SYMPTOMS; 9P SYNDROME; DELETION; SIGMA; PATIENT; LAR; CRITICAL REGION

The premature fusion of metopic sutures results in the clinical phenotype of trigonocephaly. An association of this characteristic with the monosomy 9p syndrome is well established and the receptor-type protein tyrosine phosphatase gene (PTPRD), located in the 9p24.1p23 region and encoding a major c...