Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation

ABSTRACT Preadipocyte factor 1 (Pref-1/Dlk1) inhibits in vitro adipocyte differentiation and has been recently reported to be a paternally expressed imprinted gene at human chromosome 14q32. Studies on human chromosome 14 deletions and maternal uniparental disomy (mUPD) 14 suggest that misexpression of a yet-to-be-identified imprinted gene or genes present on chromosome 14 causes congenital disorders. We generated Pref-1 knockout mice to assess the role of Pref-1 in growth and in vivo adipogenesis and to determine the contribution of Pref-1 in mUPD. Pref-1-null mice display growth retardation, obesity, blepharophimosis, skeletal malformation, and increased serum lipid metabolites. Furthermore, the phenotypes observed in Pref-1-null mice are present in heterozygotes that harbor a paternally inherited, but not in those with a maternally inherited pref-1-null allele. Our results demonstrate that Pref-1 is indeed paternally expressed and is important for normal development and for homeostasis of adipose tissue mass. We also suggest that Pref-1 is responsible for most of the symptoms observed in mouse mUPD12 and human mUPD14. Pref-1-null mice may be a model for obesity and other pathologies of human mUPD14.

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No evidence of uniparental disomy 2, 6, 14, 16, 20, and 22 as a major cause of intrauterine growth retardation

Clinical Genetics ◽

10.1034/j.1399-0004.2000.580304.x ◽

2000 ◽

Vol 58 (3) ◽

pp. 177-180 ◽

Cited By ~ 11

Author(s):

D Kotzot ◽

IW Lurie ◽

K Méhes ◽

E Werder ◽

A Schinzel

Keyword(s):

Growth Retardation ◽

Intrauterine Growth Retardation ◽

Uniparental Disomy ◽

Intrauterine Growth

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The Incidence of Uniparental Disomy Associated with Intrauterine Growth Retardation in a Cohort of Thirty-Five Severely Affected Babies

Journal of Diagnostic Medical Sonography ◽

10.1177/875647939701300326 ◽

1997 ◽

Vol 13 (3) ◽

pp. 164-164

Keyword(s):

Growth Retardation ◽

Intrauterine Growth Retardation ◽

Uniparental Disomy ◽

Intrauterine Growth

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Neonato piccolo, ipotonico, con difficoltà di alimentazione: pensiamo anche alla sindrome di Temple

Medico e Bambino pagine elettr ◽

10.53126/mebxxiv138 ◽

2021 ◽

Vol 24 (5) ◽

pp. 138-140

Author(s):

Sara Dal Bo ◽

Claudia Muratori ◽

Chiara Nardini ◽

Ilaria Donati ◽

Anna Maria Magistà ◽

...

Keyword(s):

Growth Retardation ◽

Uniparental Disomy ◽

Final Diagnosis ◽

Early Puberty ◽

Maternal Uniparental Disomy ◽

Feeding Difficulties ◽

Intrauterine Growth ◽

Imprinting Disorder ◽

Development Delay ◽

Temple Syndrome

Temple syndrome is a rare imprinting disorder mainly due to maternal uniparental disomy of the chromosome 14. It represents the main differential diagnosis of Silver-Russell and Prader-Willi syndrome. This syndrome is characterized by growth retardation, hypotonia, difficult feeding, development delay and precocious puberty. The absence of congenital pathognomonic malformations and universally recognized screening methodologies make this pathology be underdiagnosed, so the analysis of 14q32 should be evaluated in all cases of intrauterine growth restriction, hypotonia and neonatal feeding difficulties. It should also be considered in cases of unexplained early puberty associated with poor stature growth. The paper presents the case of a girl with the final diagnosis of Temple syndrome, with an initial picture of intrauterine growth retardation, axial hypotonia and feeding difficulties. The initial diagnostic suspicion was a Silver-Russell syndrome.

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