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Molecular and clinical studies in 8 patients with Temple syndrome
Author(s) -
GillessenKaesbach G.,
Albrecht B.,
Eggermann T.,
Elbracht M.,
Mitter D.,
Morlot S.,
van RavenswaaijArts C.M.A.,
Schulz S.,
StroblWildemann G.,
Buiting K.,
Beygo J.
Publication year - 2018
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13244
Subject(s) - imprinting (psychology) , genomic imprinting , uniparental disomy , short stature , hypotonia , genetics , biology , growth retardation , phenotype , endocrinology , pregnancy , chromosome , karyotype , gene , dna methylation , gene expression
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.