De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings

• Published in: Journal of medical genetics Vol. 36; no. 3; pp. 233 - 236
• Main Authors: Schuffenhauer, Simone, Leifheit, Hans-Jürgen, Lichtner, Peter, Peters, Heiko, Murken, Jan, Emmerich, P
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01-03-1999; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: Abnormalities, Multiple - genetics; Biological and medical sciences; Child, Preschool; chromosome 14; Chromosome Deletion; Chromosomes; Chromosomes, Human, Pair 14; Complex syndromes; deletion; Deoxyribonucleic acid; DNA; DNA-Binding Proteins - genetics; Dysphagia; Ears & hearing; Genes; Humans; In Situ Hybridization, Fluorescence; Male; Medical genetics; Medical sciences; Molecular weight; Mutation; Ostomy; Patients; PAX9; PAX9 Transcription Factor; q arm; Rodents; Short Report; Transcription factors; Transcription Factors - genetics; Ultrasonic imaging; Psychomotor retardation; Bilateral; Chromosome D14; Developmental disorder; Genetic determinism; Gene; Complex syndrome; Child; Human; Nervous system diseases; Agenesis; Stomatology; Coloboma; Cleft; Congenital disease; Corpus callosum; Cerebral disorder; Case study; Eye disease; Lip; Phenotype; Malformation; Central nervous system disease; Digestive diseases; Oral cavity disease; Palate; Mutation
• ISSN: 0022-2593; 1468-6244
• DOI: 10.1136/jmg.36.3.233

A 3 year old boy with a de novo deletion (14)(q11.2q13) of paternal origin encompassing the region from D14S264 to D14S70 is described. The patient presented with severe psychomotor retardation, bilateral cleft lip/palate, bilateral colobomas of the optic nerves and retinas, agenesis of the corpus callosum, pes calcaneovarus, reduced oesophageal peristalsis, and swallowing difficulties. This is the first reported case of PAX9 hemizygosity in humans. Haploinsufficiency of the PAX9 gene might be expected to cause some of the developmental defects and the dysphagia. Another haploinsufficiency candidate gene, the bZIP transcription factor gene NRL, which is specifically expressed in neuronal cells and the eye during embryogenesis, was excluded from the deletion interval.