Osteopoikilosis, Short Stature and Mental Retardation As Key Features of a New Microdeletion Syndrome on 12q14

Overview

Journal J Med Genet

Specialty Genetics

Date 2007 Jan 16

PMID 17220210

Citations 17

Authors

Bjorn Menten

Karen Buysse

Farah Zahir

Jan Hellemans

Sara J Hamilton

Teresa Costa

Carrie Fagerstrom

George Anadiotis

Daniel Kingsbury

Barbara C McGillivray

Marco A Marra

Jan M Friedman

Frank Speleman

Geert Mortier

Affiliations

Soon will be listed here.

Abstract

This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild mental retardation, failure to thrive in infancy, proportionate short stature and osteopoikilosis as the most characteristic features. In each case, this interstitial deletion was found using molecular karyotyping. The deletion occurred as a de novo event and varied between 3.44 and 6 megabases (Mb) in size with a 3.44 Mb common deleted region. The deleted interval was not flanked by low-copy repeats or segmental duplications. It contains 13 RefSeq genes, including LEMD3, which was previously shown to be the causal gene for osteopoikilosis. The observation of osteopoikilosis lesions should facilitate recognition of this new microdeletion syndrome among children with failure to thrive, short stature and learning disabilities.

Citing Articles

Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature.

Deng R, McCalman M, Bossuyt T, Barakat T Front Genet. 2021; 12:716874.

PMID: 34539745 PMC: 8441011. DOI: 10.3389/fgene.2021.716874.

12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature.

Mercadante F, Buse M, Salzano E, Fragapane T, Palazzo D, Malacarne M Ital J Pediatr. 2020; 46(1):108.

PMID: 32723361 PMC: 7389890. DOI: 10.1186/s13052-020-00866-9.

12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?.

Doria S, Alves D, Pinho M, Pinto J, Leao M BMC Med Genomics. 2020; 13(1):2.

PMID: 31900140 PMC: 6942376. DOI: 10.1186/s12920-019-0653-x.

Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant.

Korman B, Wei J, Laumann A, Ferguson P, Varga J Case Rep Dermatol Med. 2016; 2016:2483041.

PMID: 27382493 PMC: 4921644. DOI: 10.1155/2016/2483041.

12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region.

Mc Cormack A, Sharpe C, Gregersen N, Smith W, Hayes I, George A Case Rep Genet. 2015; 2015:192071.

PMID: 26266063 PMC: 4525753. DOI: 10.1155/2015/192071.

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