A New 12q21 Deletion Syndrome: A Case Report and Literature Review

Alessandra Di Nora; Greta De Costa; Alessia Di Mari; Marco Montemagno; Vito Pavone; Piero Pavone

doi:10.1055/s-0042-1748171

Global Medical Genetics, Inhaltsverzeichnis

CC BY 4.0 · Glob Med Genet 2022; 09(03): 214-218
DOI: 10.1055/s-0042-1748171

Case Report

A New 12q21 Deletion Syndrome: A Case Report and Literature Review

Alessandra Di Nora

¹Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

,

Greta De Costa

¹Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

,

Alessia Di Mari

²Department of Radiology, University of Catania, Catania, Italy

,

Marco Montemagno

³Department of General Surgery and Medical Surgical Specialties, Section of Orthopaedics and Traumatology, University Hospital Policlinico-San Marco, University of Catania, Catania, Italy

,

Vito Pavone

³Department of General Surgery and Medical Surgical Specialties, Section of Orthopaedics and Traumatology, University Hospital Policlinico-San Marco, University of Catania, Catania, Italy

,

Piero Pavone

⁴Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, Hospital “Policlinico G. Rodolico,” Catania, Italy

› Institutsangaben

Abstract

Diagnosis in children with physical and intellective anomalies is very challenging because of the wide spectrum of causes. Array-based comparative genomic hybridization (CGH) has acquired an important role in pediatric diagnostic work up. Interstitial deletion of the long arm of chromosome 12 are rare. To date, deletions including the 12q21 region were reported in only 13 patients. The main features are development delay, eyes and central nervous system anomalies, and heart and kidney defects. We describe a 3-year-old boy with a de novo 15 Mb deletion at 12q21.1q21.32, never reported in the last cases. By screening the critical region and reviewing the literature, we identified SYT1, PPP1R12A, and CEP290 such as pathogenetic genes.

Keywords

12q21 deletion - pediatry - genetic

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Referenzen

References
1 Meinecke P, Meinecke R. Multiple malformation syndrome including cleft lip and palate and cardiac abnormalities due to an interstitial deletion of chromosome 12q. J Med Genet 1987; 24 (03) 187
2 Watson MS, McAllister-Barton L, Mahoney MJ, Breg WR. Deletion (12)(q15q21.2). J Med Genet 1989; 26 (05) 343-344
3 Brady AF, Elsawi MM, Jamieson CR. et al. Clinical and molecular findings in a patient with a deletion on the long arm of chromosome 12. J Med Genet 1999; 36 (12) 939-941
4 Rauen KA, Albertson DG, Pinkel D, Cotter PD. Additional patient with del(12)(q21.2q22): further evidence for a candidate region for cardio-facio-cutaneous syndrome?. Am J Med Genet 2002; 110 (01) 51-56
5 Klein OD, Cotter PD, Schmidt AM. et al. Interstitial deletion of chromosome 12q: genotype-phenotype correlation of two patients utilizing array comparative genomic hybridization. Am J Med Genet A 2005; 138 (04) 349-354
6 Schluth C, Gesny R, Borck G. et al. New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation. Am J Med Genet A 2008; 146A (01) 93-96
7 Matsumoto A, Mizuno M, Hamada N. et al. LIN7A depletion disrupts cerebral cortex development, contributing to intellectual disability in 12q21-deletion syndrome. PLoS One 2014; 9 (03) e92695
8 Oliveira R, Pereira C, Melo JB. et al. 12q21.2q22 deletion: a new patient. Am J Med Genet A 2015; 167A (08) 1877-1883
9 Cano M, Trapasso J, Trapasso T, Matalon R. 12 q deletion with oculodentodigital dysplasia -like phenotype. Clin Case Rep Rev 2016; 2: 387-390
10 McKenna CS, Saxena N, Dabir TA, Jones J, Smith G, Morrison PJ. Phenotypic delineation of a 12q21 deletion syndrome. Clin Dysmorphol 2019; 28 (04) 198-201
11 Niclass T, Le Guyader G, Beneteau C. et al. 12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A. Am J Med Genet A 2020; 182 (09) 2133-2138
12 James PA, Oei P, Ng D, Kannu P, Aftimos S. Another case of interstitial del(12) involving the proposed cardio-facio-cutaneous candidate region. Am J Med Genet A 2005; 136 (01) 12-16
13 Baker K, Gordon SL, Melland H. et al; Broad Center for Mendelian Genomics. SYT1-associated neurodevelopmental disorder: a case series. Brain 2018; 141 (09) 2576-2591
14 Hughes JJ, Alkhunaizi E, Kruszka P. et al. Loss-of-function variants in PPP1R12A: from isolated sex reversal to holoprosencephaly spectrum and urogenital malformations. Am J Hum Genet 2020; 106 (01) 121-128
15 Coppieters F, Lefever S, Leroy BP, De Baere E. CEP290, a gene with many faces: mutation overview and presentation of CEP290base. Hum Mutat 2010; 31 (10) 1097-1108