A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism

Dagur Ingi Jonsson; Petur Ludvigsson; Swaroop Aradhya; Sunna Sigurdardottir; Margret Steinarsdottir; Helga Hauksdottir; Jon Johannes Jonsson

doi:10.1016/j.ejmg.2012.03.001

A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism

Eur J Med Genet. 2012 Jun;55(6-7):437-40. doi: 10.1016/j.ejmg.2012.03.001. Epub 2012 Apr 2.

Authors

Dagur Ingi Jonsson¹, Petur Ludvigsson, Swaroop Aradhya, Sunna Sigurdardottir, Margret Steinarsdottir, Helga Hauksdottir, Jon Johannes Jonsson

Affiliation

¹ Department of Biochemistry and Molecular Biology, Faculty of Medicine, University of Iceland, Reykjavik, Iceland.

PMID: 22534424
DOI: 10.1016/j.ejmg.2012.03.001

Abstract

A girl presented with congenital arthrogryposis, intellectual disability and mild bone-related dysmorphism. Molecular workup including the NimbleGen Human CGH 2.1M platform revealed a 1.13 Mb de novo microdeletion on chromosome 12q13.13 of paternal origin. The deletion contains 33 genes, including AAAS, AMRH2, and RARG genes as well as the HOXC gene cluster. At least one gene, CSAD, is expressed in fetal brain. The deletion partially overlaps number of reported benign CNVs and pathogenic duplications. This case appears to represent a previously unknown microdeletion syndrome and possibly the first description in humans of a disease phenotype associated with copy loss of HOXC genes.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / diagnosis*
Abnormalities, Multiple / genetics
Arthrogryposis / diagnosis*
Arthrogryposis / genetics
Child
Chromosome Deletion*
Chromosomes, Human, Pair 12 / genetics*
Comparative Genomic Hybridization
Face / abnormalities
Female
Gene Dosage
Genetic Association Studies
Humans
Intellectual Disability / diagnosis*
Intellectual Disability / genetics