title: 14q13 distal microdeletion encompassing NKX2-1 and PAX9: Patient report and refinement of the associated phenotype.
abstract: Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder whose associated phenotype is heterogeneous, depending on the size, and, mostly, on the deleted region. We report the clinical and molecular characterization of a female newborn, whose phenotype was characterized by poor growth, dysmorphic facial features, subclinical hypothyroidism, and mild reduction of CD3CD8 Lymphocytes with increased CD4/CD8 ratio. By array-CGH, we identified a 4.08 de novo interstitial deletion of the 14q13.2q21.1 region, which includes 16 OMIM genes.Our patient phenotype is compared with other published cases, for a better classification of the 14q11-q22 deletion syndrome. We demonstrated that the 14q13.2q21.1 deletion, which encompasses NKX2-1, but not FOXG1 gene and HPE8 region, identifies a well defined, more benign, microdeletion syndrome. This report confirms that an early identification with accurate characterization of the genomic disorders is of great relevance, enabling proper genetic counseling of the reproductive risk, as well as disease prognosis, and patient management. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Medical Genetics, Hospital Di Venere - ASL BARI, Bari, Italy.
authors.forename: Mattia
authors.initials: M
authors.lastname: Gentile
authors.affiliation: Neonatology and NICU, Department of Biochemical Sciences and Human Oncology, University of Bari, Bari, Italy.
authors.forename: Delia
authors.initials: D
authors.lastname: De Mattia
authors.affiliation: Department of Medical Genetics, Hospital Di Venere - ASL BARI, Bari, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Pansini
authors.affiliation: Neonatology and NICU, Department of Biochemical Sciences and Human Oncology, University of Bari, Bari, Italy.
authors.forename: Federico
authors.initials: F
authors.lastname: Schettini
authors.affiliation: Department of Medical Genetics, Hospital Di Venere - ASL BARI, Bari, Italy.
authors.forename: Antonia Lucia
authors.initials: AL
authors.lastname: Buonadonna
authors.affiliation: Neonatology and NICU, Department of Biochemical Sciences and Human Oncology, University of Bari, Bari, Italy.
authors.forename: Manuela
authors.initials: M
authors.lastname: Capozza
authors.affiliation: Department of Medical Genetics, Hospital Di Venere - ASL BARI, Bari, Italy.
authors.forename: Romina
authors.initials: R
authors.lastname: Ficarella
authors.affiliation: Neonatology and NICU, Department of Biochemical Sciences and Human Oncology, University of Bari, Bari, Italy.
authors.forename: Nicola
authors.initials: N
authors.lastname: Laforgia
mesh_terms: D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D005145:Face / Q000503:physiopathology; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics* / Q000503:physiopathology; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008214:Lymphocytes / Q000473:pathology; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C090173:FOXG1 protein, human; D051858:Forkhead Transcription Factors; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors
keywords: 14q13 microdeletion; CAHTP syndrome; NKX2-1; PAX9; chromosome 14 deletion; genotype-phenotype