12p deletion spectrum syndrome: a new case report reinforces the evidence regarding the potential relationship to autism spectrum disorder and related developmental impairments

Abstract

BackgroundAutism Spectrum Disorders (ASD) now encompass a broad heterogeneous group of people who present in the early developmental years with a wide range of social and communication deficits, which are typically also associated with complex repetitive behaviors and circumscribed interests.The target goal is to heighten readers’ perception into the trend to personalize the distinct autistic and related developmental conditions encompassing the 12p region.Case PresentationThis is a case-report of a 4-year-old male who presented the core signs of ASD, which were thought to be related to a rare 12p13.2 deletion. We further reviewed the literature in order to outline the related developmental conditions in the 12p region.Aside from this patient reported here, we found an additional number of 43 cases described in the medical literature since 1974, that have been related to deletions in the 12p region. However, to the best of our knowledge, none of the previous had been specifically linked to the 12p13.2 band.ConclusionsThe 12p deletion spectrum is rarely described as part of the selective genotypes thought to be related to ASD. Even inside of a small piece of the puzzle, there might be ample variation in the behavioral and clinical phenotypes of children and adults presenting with this particular genetic profile.In that regard, the particular 12p13.2 distal deletion presentation is one of the possible genotypes encompassed by the “12p deletion spectrum syndrome”, that might be potentially connected to the diagnosis of ASD and related developmental disorders.

Identification of novel genomic imbalances in Saudi patients with congenital heart disease

“…Chromosome 12p (12p12.1p11.21) and chromosome 16p (16p11.2) deletions are not commonly co-occurring. There are reports for deletions for 12p and 16 p regions [ 59 , 60 ]. There is only a single report of an interesting patient, who harbors two-hits, maternally inherited 16p13.11-p12.3 duplication and a de novo 12p12.1 deletion [ 61 ] whereas our patient has a paternally inherited 16p11.2 deletion and a de novo 12p12.1p11.21 deletion.…”

Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33–p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review

“…Constitutional deletions involving the distal part of the short arm of Genes 2021, 12, 1001 2 of 11 chromosome 12 (12p13. 33-p13.32) are very rare and have been reported in only 28 cases so far [6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23]; either inherited [14,15,17] or sporadic [12,16,17,21,23] and identified by conventional karyotyping or chromosomal microarray (CMA). Notably, among the reported cases, the clinical manifestations differed substantially according to the size of the deletion.…”

“…Fine mapping of the subtelomeric regions has become a new strategy for identifying novel genes responsible for DD and/or ID. Constitutional deletions involving the distal part of the short arm of chromosome 12 (12p13.33–p13.32) are very rare and have been reported in only 28 cases so far [ 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 ]; either inherited [ 14 , 15 , 17 ] or sporadic [ 12 , 16 , 17 , 21 , 23 ] and identified by conventional karyotyping or chromosomal microarray (CMA). Notably, among the reported cases, the clinical manifestations differed substantially according to the size of the deletion.…”

Papillary haemangioma in the spinal canal of a patient with a germline 12p microdeletion

“…However, it is not among the benign copy number variants in the Database of Genomic Variants. Leyser et al . described a 4‐year‐old boy with autism and a 12p deletion and reviewed 43 additional cases of patients with germline 12p deletions associated with autism and related neurodevelopmental impairments.…”