Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome)

• DOI: 10.1038/ejhg.2015.13
• Publication Date: 2015-02-18T11:14:57Z
• Authors: Masayo Kagami; Kenji Kurosawa; Osamu Miyazaki; Fumitoshi Ishino; Kentaro Matsuoka; Tsutomu Ogata
• Keywords: Chromosomes, Human, Pair 14; Male; 0301 basic medicine; Beckwith-Wiedemann Syndrome; Adolescent; Developmental Disabilities; Infant, Newborn; Infant; Gestational Age; Kaplan-Meier Estimate; Uniparental Disomy; Article; 3. Good health; Craniofacial Abnormalities; Genomic Imprinting; 03 medical and health sciences; Pregnancy; Child, Preschool; Intellectual Disability; Humans; Abnormalities, Multiple; Female; Child

Paternal uniparental disomy 14 (UPD(14)pat) and epimutations microdeletions affecting the maternally derived 14q32.2 imprinted region lead to a unique constellation of clinical features such as facial abnormalities, small bell-shaped thorax with coat-hanger appearance ribs, abdominal wall defects, placentomegaly, polyhydramnios. In this study, we performed comprehensive studies in patients UPD(14)pat (n=23), (n=5), (n=6), revealed several notable findings. First, full cheeks protruding philtrum distinctive chest roentgenograms increased angles ribs constituted pathognomonic from infancy through childhood. Second, birth size was well preserved, median length ±0 SD (range, −1.7 +3.0 SD) weight +2.3 +0.1 +8.8 SD). Third, developmental delay and/or intellectual disability invariably present, developmental/intellectual quotient 55 29–70). Fourth, hepatoblastoma identified three infantile (8.8%), histological examination two showed poorly differentiated embryonal focal macrotrabecular lesions well-differentiated hepatoblastoma, respectively. These findings suggest necessity an adequate support for periodical screening affected patients, some phenotypic overlap between related conditions Beckwith–Wiedemann syndrome. On basis our previous present that have made significant contribution clarification underlying (epi)genetic factors definition findings, propose name 'Kagami–Ogata syndrome' conditions.