Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster

Karin Buiting; Deniz Kanber; José I. Martín-Subero; Wolfgang Lieb; Paulien Terhal; Beate Albrecht; Sabine Purmann; Stephanie Gross; Christina Lich; Reiner Siebert; Bernhard Horsthemke; Gabriele Gillessen-Kaesbach

doi:10.1002/humu.20771

Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster

Karin Buiting^*, Deniz Kanber, José I. Martín-Subero, Wolfgang Lieb, Paulien Terhal, Beate Albrecht, Sabine Purmann, Stephanie Gross, Christina Lich, Reiner Siebert, Bernhard Horsthemke, Gabriele Gillessen-Kaesbach

^*Corresponding author for this work

53 Citations (Scopus)

Abstract

Maternal uniparental disomy 14 [upd(14)mat] is associated with a recognizable phenotype that includes preand postnatal growth retardation, neonatal hypotonia, feeding problems and precocious puberty. Chromosome 14 contains an imprinted gene cluster, which is regulated by a differentially methylated region (IG-DMR) between DLK1 and GTL2. Here we report on four patients with clinical features of upd(14)mat who show a maternal-only methylation pattern, but biparental inheritance for chromosome 14. In three of the patients loss of paternal methylation appears to be a primary epimutation, whereas the other patient has a paternally derived deletion of -1 Mb that includes the imprinted DLK1-GTL2 gene cluster. These findings demonstrate that the upd(14)mat phenotype is caused by altered expression of genes within this cluster.

Original language	English
Journal	Human Mutation
Volume	29
Issue number	9
Pages (from-to)	1141-1146
Number of pages	6
ISSN	1059-7794
DOIs	https://doi.org/10.1002/humu.20771
Publication status	Published - 01.09.2008

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Research Area: Medical Genetics

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Buiting, K., Kanber, D., Martín-Subero, J. I., Lieb, W., Terhal, P., Albrecht, B., Purmann, S., Gross, S., Lich, C., Siebert, R., Horsthemke, B., & Gillessen-Kaesbach, G. (2008). Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster. Human Mutation, 29(9), 1141-1146. https://doi.org/10.1002/humu.20771

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abstract = "Maternal uniparental disomy 14 [upd(14)mat] is associated with a recognizable phenotype that includes preand postnatal growth retardation, neonatal hypotonia, feeding problems and precocious puberty. Chromosome 14 contains an imprinted gene cluster, which is regulated by a differentially methylated region (IG-DMR) between DLK1 and GTL2. Here we report on four patients with clinical features of upd(14)mat who show a maternal-only methylation pattern, but biparental inheritance for chromosome 14. In three of the patients loss of paternal methylation appears to be a primary epimutation, whereas the other patient has a paternally derived deletion of -1 Mb that includes the imprinted DLK1-GTL2 gene cluster. These findings demonstrate that the upd(14)mat phenotype is caused by altered expression of genes within this cluster.",

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Buiting, K, Kanber, D, Martín-Subero, JI, Lieb, W, Terhal, P, Albrecht, B, Purmann, S, Gross, S, Lich, C, Siebert, R, Horsthemke, B & Gillessen-Kaesbach, G 2008, 'Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster', Human Mutation, vol. 29, no. 9, pp. 1141-1146. https://doi.org/10.1002/humu.20771

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AU - Buiting, Karin

AU - Kanber, Deniz

AU - Martín-Subero, José I.

AU - Lieb, Wolfgang

AU - Terhal, Paulien

AU - Albrecht, Beate

AU - Purmann, Sabine

AU - Gross, Stephanie

AU - Lich, Christina

AU - Siebert, Reiner

AU - Horsthemke, Bernhard

AU - Gillessen-Kaesbach, Gabriele

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N2 - Maternal uniparental disomy 14 [upd(14)mat] is associated with a recognizable phenotype that includes preand postnatal growth retardation, neonatal hypotonia, feeding problems and precocious puberty. Chromosome 14 contains an imprinted gene cluster, which is regulated by a differentially methylated region (IG-DMR) between DLK1 and GTL2. Here we report on four patients with clinical features of upd(14)mat who show a maternal-only methylation pattern, but biparental inheritance for chromosome 14. In three of the patients loss of paternal methylation appears to be a primary epimutation, whereas the other patient has a paternally derived deletion of -1 Mb that includes the imprinted DLK1-GTL2 gene cluster. These findings demonstrate that the upd(14)mat phenotype is caused by altered expression of genes within this cluster.

AB - Maternal uniparental disomy 14 [upd(14)mat] is associated with a recognizable phenotype that includes preand postnatal growth retardation, neonatal hypotonia, feeding problems and precocious puberty. Chromosome 14 contains an imprinted gene cluster, which is regulated by a differentially methylated region (IG-DMR) between DLK1 and GTL2. Here we report on four patients with clinical features of upd(14)mat who show a maternal-only methylation pattern, but biparental inheritance for chromosome 14. In three of the patients loss of paternal methylation appears to be a primary epimutation, whereas the other patient has a paternally derived deletion of -1 Mb that includes the imprinted DLK1-GTL2 gene cluster. These findings demonstrate that the upd(14)mat phenotype is caused by altered expression of genes within this cluster.

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Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster

Abstract

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