Limits...
Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.

Schwaibold EM, Smogavec M, Hobbiebrunken E, Winter L, Zoll B, Burfeind P, Brockmann K, Pauli S - Mol Cytogenet (2014)

Bottom Line: It results from either a microdeletion of or a deleterious sequence variant in the gene euchromatic histone-lysine N-methyltransferase 1 (EHMT1) on chromosome 9q34.Array comparative genomic hybridization analysis revealed a 145 kilobases duplication spanning exons 2 to 10 of EHMT1.This is the first description of an intragenic duplication of EHMT1 resulting in Kleefstra syndrome.

View Article: PubMed Central - PubMed

Affiliation: Institute of Human Genetics, Georg August University, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.

ABSTRACT

Background: Kleefstra syndrome is characterized by intellectual disability, muscular hypotonia in childhood and typical facial features. It results from either a microdeletion of or a deleterious sequence variant in the gene euchromatic histone-lysine N-methyltransferase 1 (EHMT1) on chromosome 9q34.

Results: We report on a 3-year-old girl with characteristic symptoms of Kleefstra syndrome. Array comparative genomic hybridization analysis revealed a 145 kilobases duplication spanning exons 2 to 10 of EHMT1. Sequence analysis characterized it as an intragenic tandem duplication leading to a frame shift with a premature stop codon in EHMT1.

Conclusions: This is the first description of an intragenic duplication of EHMT1 resulting in Kleefstra syndrome.

No MeSH data available.


Related in: MedlinePlus

Representative photographs of the patient at 2 11/12 years of age. (a-b) The main facial features of the girl were: brachycephaly, prominent forehead, hypertelorism with mildly downslanting palpebral fissures, intermittent exotrophy, synophris, small nose with anteverted nostrils and deep-set nasal root, mild prognathism, deep-set posterior rotated ears, full cheeks and prominent philtrum. Note the mostly opened mouth with cupid bowed upper lip and full lower lip. (c) The frontal part of her plantar feet was deeply creased. (d) Her back was hairy.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
getmorefigures.php?uid=PMC4209064&req=5

Fig1: Representative photographs of the patient at 2 11/12 years of age. (a-b) The main facial features of the girl were: brachycephaly, prominent forehead, hypertelorism with mildly downslanting palpebral fissures, intermittent exotrophy, synophris, small nose with anteverted nostrils and deep-set nasal root, mild prognathism, deep-set posterior rotated ears, full cheeks and prominent philtrum. Note the mostly opened mouth with cupid bowed upper lip and full lower lip. (c) The frontal part of her plantar feet was deeply creased. (d) Her back was hairy.

Mentions: At 2 11/12 years of age the patient displayed the following facial features (Figure 1a-b): square, brachycephalic face with a prominent forehead and frontal bossing, slight midface hypoplasia, hypertelorism with mildly downslanting palpebral fissures, synophris, small nose with anteverted nostrils and deep-set nasal root, mild prognathism, deep-set posterior rotated ears, full cheeks and prominent philtrum. The girl held her mouth mostly opened with a cupid bowed upper lip, full lower lip and a slightly protruding tongue. An ophthalmologic examination confirmed an intermittent exotrophy. The patient’s soles of the feet were deeply creased in their frontal part (Figure 1c). Her back was hairy (Figure 1d).Figure 1


Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.

Schwaibold EM, Smogavec M, Hobbiebrunken E, Winter L, Zoll B, Burfeind P, Brockmann K, Pauli S - Mol Cytogenet (2014)

Representative photographs of the patient at 2 11/12 years of age. (a-b) The main facial features of the girl were: brachycephaly, prominent forehead, hypertelorism with mildly downslanting palpebral fissures, intermittent exotrophy, synophris, small nose with anteverted nostrils and deep-set nasal root, mild prognathism, deep-set posterior rotated ears, full cheeks and prominent philtrum. Note the mostly opened mouth with cupid bowed upper lip and full lower lip. (c) The frontal part of her plantar feet was deeply creased. (d) Her back was hairy.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4209064&req=5

Fig1: Representative photographs of the patient at 2 11/12 years of age. (a-b) The main facial features of the girl were: brachycephaly, prominent forehead, hypertelorism with mildly downslanting palpebral fissures, intermittent exotrophy, synophris, small nose with anteverted nostrils and deep-set nasal root, mild prognathism, deep-set posterior rotated ears, full cheeks and prominent philtrum. Note the mostly opened mouth with cupid bowed upper lip and full lower lip. (c) The frontal part of her plantar feet was deeply creased. (d) Her back was hairy.
Mentions: At 2 11/12 years of age the patient displayed the following facial features (Figure 1a-b): square, brachycephalic face with a prominent forehead and frontal bossing, slight midface hypoplasia, hypertelorism with mildly downslanting palpebral fissures, synophris, small nose with anteverted nostrils and deep-set nasal root, mild prognathism, deep-set posterior rotated ears, full cheeks and prominent philtrum. The girl held her mouth mostly opened with a cupid bowed upper lip, full lower lip and a slightly protruding tongue. An ophthalmologic examination confirmed an intermittent exotrophy. The patient’s soles of the feet were deeply creased in their frontal part (Figure 1c). Her back was hairy (Figure 1d).Figure 1

Bottom Line: It results from either a microdeletion of or a deleterious sequence variant in the gene euchromatic histone-lysine N-methyltransferase 1 (EHMT1) on chromosome 9q34.Array comparative genomic hybridization analysis revealed a 145 kilobases duplication spanning exons 2 to 10 of EHMT1.This is the first description of an intragenic duplication of EHMT1 resulting in Kleefstra syndrome.

View Article: PubMed Central - PubMed

Affiliation: Institute of Human Genetics, Georg August University, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.

ABSTRACT

Background: Kleefstra syndrome is characterized by intellectual disability, muscular hypotonia in childhood and typical facial features. It results from either a microdeletion of or a deleterious sequence variant in the gene euchromatic histone-lysine N-methyltransferase 1 (EHMT1) on chromosome 9q34.

Results: We report on a 3-year-old girl with characteristic symptoms of Kleefstra syndrome. Array comparative genomic hybridization analysis revealed a 145 kilobases duplication spanning exons 2 to 10 of EHMT1. Sequence analysis characterized it as an intragenic tandem duplication leading to a frame shift with a premature stop codon in EHMT1.

Conclusions: This is the first description of an intragenic duplication of EHMT1 resulting in Kleefstra syndrome.

No MeSH data available.


Related in: MedlinePlus