Microdeletion 12p12.1 involving SRY-related HMG-box 5 gene with developmental delay and autistic behavior: A rare case report

Abstract

The estimated prevalence of intellectual disability (ID) is 10.37/1000 population. One of the major causes of ID is a chromosomal abnormality. SRY-related HMG-box 5 (SOX5) gene encodes a member of the SOX family of transcription factors, which may act as a transcriptional regulator involved in the regulation of chondrogenesis and the development of the nervous system by regulation of the production of subcortical projection neurons. Array-comparative genomic hybridization (array-CGH) is a molecular-cytogenetic method used to detect submicroscopic copy number variants within the genome, which is not visible by conventional karyotyping. We describe the extensive application of array-CGH in a 4-year-old male child who presented with global developmental delay (DD), behavioral abnormality, microcephaly, mild dysmorphic facial features, and constriction ring around prepuce with 12p12.1 microdeletion (166 kb deletion) involving SOX5 gene. The patient is under follow-up with a pediatrician, geneticist, speech therapist, and physiotherapist. A high index of suspicion for cytogenetic abnormalities should be present in a pediatric patient presenting with DD, genitourinary abnormalities, and associated with or without facial dysmorphism.

Keywords

• 12p12.1 microdeletion
• array-comparative genomic hybridization
• developmental delay
• microcephaly