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

Kagami M, Kurosawa K, Miyazaki O, Ishino F, Matsuoka K, Ogata T - Eur. J. Hum. Genet. (2015)

Bottom Line: Second, birth size was well preserved, with a median birth length of ±0 SD (range, -1.7 to +3.0 SD) and a median birth weight of +2.3 SD (range, +0.1 to +8.8 SD).Third, developmental delay and/or intellectual disability was invariably present, with a median developmental/intellectual quotient of 55 (range, 29-70).On the basis of our previous and present studies that have made a significant contribution to the clarification of underlying (epi)genetic factors and the definition of clinical findings, we propose the name 'Kagami-Ogata syndrome' for UPD(14)pat and related conditions.

View Article: PubMed Central - PubMed

Affiliation: Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

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

No MeSH data available.


Related in: MedlinePlus

Kaplan–Meier survival curves according to the (epi)genetic cause and the gestational age (week), and summary of the causes of death. GA, gestational age; URI, upper respiratory infection; and RS, respiratory syncytial. Patients #8, #17, and #18 had hepatoblastoma.
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fig5: Kaplan–Meier survival curves according to the (epi)genetic cause and the gestational age (week), and summary of the causes of death. GA, gestational age; URI, upper respiratory infection; and RS, respiratory syncytial. Patients #8, #17, and #18 had hepatoblastoma.

Mentions: Eight patients were deceased before 4 years of age. The survival rate was 78% in UPD-group, 100% in Epi-group, and 50% in Del-group; it was 25% in patients born ⩽29 weeks of gestation, 83% in those born 30–36 weeks of gestation, and 86% in those born ⩾37 weeks of gestation (Figure 5). The cause of death was variable; however, respiratory problems were a major factor, because patient #1 died of neonatal respiratory distress syndrome, and patients #8, #30 and #33 died during a respiratory infection. Of the three patients with hepatoblastoma, patient #17 died of hepatoblastoma, whereas patient #8 died during influenza infection and patient #18 died of hemophagocytic syndrome.


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

Kagami M, Kurosawa K, Miyazaki O, Ishino F, Matsuoka K, Ogata T - Eur. J. Hum. Genet. (2015)

Kaplan–Meier survival curves according to the (epi)genetic cause and the gestational age (week), and summary of the causes of death. GA, gestational age; URI, upper respiratory infection; and RS, respiratory syncytial. Patients #8, #17, and #18 had hepatoblastoma.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4613461&req=5

fig5: Kaplan–Meier survival curves according to the (epi)genetic cause and the gestational age (week), and summary of the causes of death. GA, gestational age; URI, upper respiratory infection; and RS, respiratory syncytial. Patients #8, #17, and #18 had hepatoblastoma.
Mentions: Eight patients were deceased before 4 years of age. The survival rate was 78% in UPD-group, 100% in Epi-group, and 50% in Del-group; it was 25% in patients born ⩽29 weeks of gestation, 83% in those born 30–36 weeks of gestation, and 86% in those born ⩾37 weeks of gestation (Figure 5). The cause of death was variable; however, respiratory problems were a major factor, because patient #1 died of neonatal respiratory distress syndrome, and patients #8, #30 and #33 died during a respiratory infection. Of the three patients with hepatoblastoma, patient #17 died of hepatoblastoma, whereas patient #8 died during influenza infection and patient #18 died of hemophagocytic syndrome.

Bottom Line: Second, birth size was well preserved, with a median birth length of ±0 SD (range, -1.7 to +3.0 SD) and a median birth weight of +2.3 SD (range, +0.1 to +8.8 SD).Third, developmental delay and/or intellectual disability was invariably present, with a median developmental/intellectual quotient of 55 (range, 29-70).On the basis of our previous and present studies that have made a significant contribution to the clarification of underlying (epi)genetic factors and the definition of clinical findings, we propose the name 'Kagami-Ogata syndrome' for UPD(14)pat and related conditions.

View Article: PubMed Central - PubMed

Affiliation: Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

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

No MeSH data available.


Related in: MedlinePlus