Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Research Abstract Details 

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Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Abstract Text:

Tjitske Kleefstra,Han G Brunner,Jeanne Amiel,Astrid R Oudakker,Willy M Nillesen,Alex Magee,David , Cormier-Daire,Hilde van Esch,Jean-Pierre Fryns,Ben C J Hamel,Erik A Sistermans,Bert B A de Vries,Hans van Bokhoven,

A clinically recognizable 9q subtelomeric deletion syndrome has recently been established. Common features seen in these patients are severe mental retardation, hypotonia, brachycephaly, flat face with hypertelorism, synophrys, anteverted nares, cupid bow or tented upper lip, everted lower lip, prognathism, macroglossia, conotruncal heart defects, and behavioral problems. The minimal critical region responsible for this 9q subtelomeric deletion (9q-) syndrome has been estimated to be <1 Mb and comprises the euchromatin histone methyl transferase 1 gene (EHMT1). Previous studies suggested that haploinsufficiency for EHMT1 is causative for 9q subtelomeric deletion syndrome. We have performed a comprehensive mutation analysis of the EHMT1 gene in 23 patients with clinical presentations reminiscent of 9q subtelomeric deletion syndrome. This analysis revealed three additional microdeletions that comprise the EHMT1 gene, including one interstitial deletion that reduces the critical region for this syndrome. Most importantly, we identified two de novo mutations--a nonsense mutation and a frameshift mutation--in the EHMT1 gene in patients with a typical 9q- phenotype. These results establish that haploinsufficiency of EHMT1 is causative for 9q subtelomeric deletion syndrome.

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Publishing Authors By Initials

T Kleefstra,HG Brunner,J Amiel,AR Oudakker,WM Nillesen,A Magee,D ,V Cormier-Daire,H van Esch,JP Fryns,BC Hamel,EA Sistermans,BB de Vries,H van Bokhoven,

For similar pathological conditions, signs and symptoms: pathologic processes: disease: syndrome research abstracts see: pathological conditions, signs and symptoms: pathologic processes: disease: syndrome research

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Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: American journal of human genetics

VOLUME: 79

Page Numbers: 370-7

Journal Abbreviation: Am. J. Hum. Genet.

ISSN: 0002-9297

DAY: 13

MONTH: 06

YEAR: 2006

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Information

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LANGUAGE: eng

NlmUniqueID: 370475

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Keywords Mesh Terms:

KEYWORDS: Syndrome

MESH TERMS: genetics

Chemical & Substance for Abstract: Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Information

Substance Name: euchromatic histone methyltransferase 1,

Registry Number: EC 2.1.1.-

Grant and Affiliation Information for Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

AFFILIATION: Department of Human Genetics 849, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. T.Kleefstra@antrg.umcn.nl

Country: United States

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MEDLINETA: Am J Hum Genet

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ACCESSION NUMBER: NM_024757

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