Absence of Skeletal Anomalies In Siblings With a Maternally Inherited 12q13.13-q13.2 Microdeletion Partially Involving the HOXC Gene Cluster

作者：Peterson Jess F; Hartman Jessica; Ghaloul Gonzalez Lina; Surti Urvashi; Hu Jie^*

来源：American Journal of Medical Genetics, Part A, 2014, 164(3): 810-814.

DOI：10.1002/ajmg.a.36359

• 12q13
• 12q13
• 13
• 12q13
• 2
• HOX
• HOXC
• microdeletion
• array comparative genomic hybridization (aCGH)

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 969kb 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.

• 出版日期2014-3