Absence of skeletal anomalies in siblings with a maternally inherited 12q13.13-q13.2 microdeletion partially involving the HOXC gene cluster. Am J Med Genet A 2014 Mar;164A(3):810-4
Date
01/21/2014Pubmed ID
24443387DOI
10.1002/ajmg.a.36359Scopus ID
2-s2.0-84894244633 (requires institutional sign-in at Scopus site) 5 CitationsAbstract
Microdeletions (12q13.13-q13.2) involving the HOXC gene cluster are rare. Only three patients with this contiguous deletion have been reported, all resulting in phenotypic features that include skeletal anomalies, facial dysmorphism, and intellectual disability. The deletion of the HOXC gene cluster is thought to result in skeletal anomalies in these patients. We report on siblings with a 969 kb deletion in the 12q13.13-q13.2 region detected by array comparative genomic hybridization (aCGH). This deletion spans seven of nine HOXC cluster genes. FISH analysis confirmed the siblings and mother were carriers of the 12q13.13-q13.2 deletion. Although minor facial dysmorphic features were present in both siblings, no skeletal anomalies were present in the siblings or the mother. The proband had autistic-like features and mild developmental delay, while the sibling and mother are of normal intelligence. The absence of skeletal anomalies in our family suggests that deletion of the entire HOXC gene cluster may be required to result in an abnormal skeletal phenotype, or those skeletal anomalies in previously reported patients may be attributed to other genes within the deletion interval.
Author List
Peterson JF, Hartman J, Ghaloul-Gonzalez L, Surti U, Hu JMESH terms used to index this publication - Major topics in bold
Abnormalities, MultipleChild, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 12
Comparative Genomic Hybridization
Homeodomain Proteins
Humans
In Situ Hybridization, Fluorescence
Male
Multigene Family
Phenotype
Siblings