Molecular and clinical studies in 8 patients with Temple syndrome

G. Gillessen-Kaesbach; B. Albrecht; T. Eggermann; M. Elbracht; D. Mitter; S. Morlot; C. M.A. van Ravenswaaij-Arts; S. Schulz; G. Strobl-Wildemann; K. Buiting; J. Beygo

doi:10.1111/cge.13244

Molecular and clinical studies in 8 patients with Temple syndrome

G. Gillessen-Kaesbach, B. Albrecht, T. Eggermann, M. Elbracht, D. Mitter, S. Morlot, C. M.A. van Ravenswaaij-Arts, S. Schulz, G. Strobl-Wildemann, K. Buiting, J. Beygo^*

^*Corresponding author for this work

Institute of Human Genetics

23 Citations (Scopus)

Abstract

Temple syndrome (TS14, #616222) is a rare imprinting disorder characterised by phenotypic features including pre- and postnatal growth retardation, muscular hypotonia and feeding difficulties in infancy, early puberty and short stature with small hands and feet and often truncal obesity. It is caused by maternal uniparental disomies, paternal deletions and primary imprinting defects that affect the chromosomal region 14q32 and lead to a disturbed expression of imprinted genes in this region. Here, we present detailed clinical data of 8 patients with Temple syndrome, 4 with an imprinting defect, 2 with an imprinting defect in a mosaic state as well as 1 complete and 1 segmental maternal uniparental disomy of chromosome 14.

Original language	English
Journal	Clinical Genetics
Volume	93
Issue number	6
Pages (from-to)	1179-1188
Number of pages	10
ISSN	0009-9163
DOIs	https://doi.org/10.1111/cge.13244
Publication status	Published - 06.2018

Funding

The authors thank the patients and their families for participating in this study and Christina Lich for expert technical assistance. Part of this work was funded by the Bundesministerium für Bildung und For-schung (BMBF; Imprinting diseases, grant no. 01GM1513A and D).

Research Areas and Centers

Research Area: Medical Genetics

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title = "Molecular and clinical studies in 8 patients with Temple syndrome",

abstract = "Temple syndrome (TS14, \#616222) is a rare imprinting disorder characterised by phenotypic features including pre- and postnatal growth retardation, muscular hypotonia and feeding difficulties in infancy, early puberty and short stature with small hands and feet and often truncal obesity. It is caused by maternal uniparental disomies, paternal deletions and primary imprinting defects that affect the chromosomal region 14q32 and lead to a disturbed expression of imprinted genes in this region. Here, we present detailed clinical data of 8 patients with Temple syndrome, 4 with an imprinting defect, 2 with an imprinting defect in a mosaic state as well as 1 complete and 1 segmental maternal uniparental disomy of chromosome 14.",

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doi = "10.1111/cge.13244",

language = "English",

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AU - Gillessen-Kaesbach, G.

AU - Albrecht, B.

AU - Eggermann, T.

AU - Elbracht, M.

AU - Mitter, D.

AU - Morlot, S.

AU - van Ravenswaaij-Arts, C. M.A.

AU - Schulz, S.

AU - Strobl-Wildemann, G.

AU - Buiting, K.

AU - Beygo, J.

PY - 2018/6

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N2 - Temple syndrome (TS14, #616222) is a rare imprinting disorder characterised by phenotypic features including pre- and postnatal growth retardation, muscular hypotonia and feeding difficulties in infancy, early puberty and short stature with small hands and feet and often truncal obesity. It is caused by maternal uniparental disomies, paternal deletions and primary imprinting defects that affect the chromosomal region 14q32 and lead to a disturbed expression of imprinted genes in this region. Here, we present detailed clinical data of 8 patients with Temple syndrome, 4 with an imprinting defect, 2 with an imprinting defect in a mosaic state as well as 1 complete and 1 segmental maternal uniparental disomy of chromosome 14.

AB - Temple syndrome (TS14, #616222) is a rare imprinting disorder characterised by phenotypic features including pre- and postnatal growth retardation, muscular hypotonia and feeding difficulties in infancy, early puberty and short stature with small hands and feet and often truncal obesity. It is caused by maternal uniparental disomies, paternal deletions and primary imprinting defects that affect the chromosomal region 14q32 and lead to a disturbed expression of imprinted genes in this region. Here, we present detailed clinical data of 8 patients with Temple syndrome, 4 with an imprinting defect, 2 with an imprinting defect in a mosaic state as well as 1 complete and 1 segmental maternal uniparental disomy of chromosome 14.

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ER -

Molecular and clinical studies in 8 patients with Temple syndrome

Abstract

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UN SDGs

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