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

13 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

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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.",

author = "G. Gillessen-Kaesbach and B. Albrecht and T. Eggermann and M. Elbracht and D. Mitter and S. Morlot and {van Ravenswaaij-Arts}, {C. M.A.} and S. Schulz and G. Strobl-Wildemann and K. Buiting and J. Beygo",

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doi = "10.1111/cge.13244",

language = "English",

volume = "93",

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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

Y1 - 2018/6

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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DO - 10.1111/cge.13244

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Molecular and clinical studies in 8 patients with Temple syndrome

Abstract

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