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Delineation of the 3p14.1p13 Microdeletion Associated With Syndromic Distal Limb Contractures

Lookup NU author(s): Dr Tara Montgomery

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Abstract

Distal limb contractures (DLC) represent a heterogeneous clinical and genetic condition. Overall, 20-25% of the DLC are caused by mutations in genes encoding the muscle contractile apparatus. Large interstitial deletions of the 3p have already been diagnosed by standard chromosomal analysis, but not associated with a specific phenotype. We report on four patients with syndromic DLC presenting with a de novo 3p14.1p13 microdeletion. The clinical features associated multiple contractures, feeding problems, developmental delay, and intellectual disability. Facial dysmorphism was constant with low-set posteriorly rotated ears and blepharophimosis. Review of previously reported cases with a precise mapping of the deletions, documented a 250kb smallest region of overlap (SRO) necessary for DLC. This region contained one gene, EIF4E3, the first three exons of the FOXP1 gene, and an intronic enhancer of FOXP1 named hs1149. Sanger sequencing and locus quantification of hs1149, EIF4E3, and FOXP1 in a cohort of 11 French patients affected by DLC appeared normal. In conclusion, we delineate a new microdeletion syndrome involving the 3p14.1p13 locus and associated with DLC and severe developmental delay. (c) 2014 Wiley Periodicals, Inc.

Publication metadata

Author(s): Thevenon J, Monnier N, Callier P, Dieterich K, Francoise M, Montgomery T, Kjaergaard S, Neas K, Dixon J, Dahm TL, Huet F, Ragon C, Mosca-Boidron AL, Marle N, Duplomb L, Aubriot-Lorton MH, Mugneret F, Vokes SA, Tucker HW, Lunardi J, Faivre L, Jouk PS, Thauvin-Robinet C

Publication type: Article

Publication status: Published

Journal: American Journal of Medical Genetics Part A

Year: 2014

Volume: 164

Issue: 12

Pages: 3027-3034

Print publication date: 01/12/2014

Online publication date: 24/09/2014

Acceptance date: 14/08/2014

ISSN (print): 1552-4825

ISSN (electronic): 1552-4833

Publisher: Wiley-Blackwell

URL: http://dx.doi.org/10.1002/ajmg.a.36751

DOI: 10.1002/ajmg.a.36751

PubMed id: 25258245

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