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12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.
Am J Med Genet A. 2020 Jul 06 [Online ahead of print]AJ

Abstract

Deletions in the 12q21 region are rare and non-recurrent CNVs. To date, only 11 patients with deletions in this region have been reported in the literature. These patients most often presented with syndromic intellectual deficiency, ventriculomegaly or hydrocephalus, ectodermal abnormalities, growth retardation and renal and cardiac malformations, suggesting a recognizable microdeletion syndrome. We report three new patients with overlapping deletions of the 12q21 region, including the smallest deletion reported to date and the first case characterized by array CGH during pregnancy. We describe specific clinical findings and shared facial features as developmental delay, ectodermal abnormalities, ventriculomegaly or hydrocephalus, axial hypotonia or spastic diplegia, growth retardation, heart defect, hydronephrosis, ureteral reflux or horseshoe kidney, large thorax or pectus excavatum, syndactyly of 2-3 toes, pterygium coli or excess nuchal skin, large anterior fontanel, low set ears, prominent forehead, short-upturned nose with nostril hypoplasia, microretrognathia and hypertelorism. These new patients and a comprehensive review of the literature allow us to define a minimum critical region spanning 1.6 Mb in 12q21. By screening the critical region using prediction tools, we identified two candidate genes: SYT1and PPP1R12A.

Authors+Show Affiliations

Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers, France.Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers, France. EA 3808 NEUVACOD, Université de Poitiers, Poitiers, France.Department of Medical Genetics, Centre Hospitalier Universitaire de Nantes, Nantes, France.Department of Anatomic and Fetal Pathology, Centre Hospitalier Universitaire de Nantes, Nantes, France.Department of Medical Genetics, Policlinico di Roma, Rome, Italy.Fondazione IRCCS Casa Sollievo della Sofferenza, Cytogenetics Unit, San Giovanni Rotondo, FG, Italy.Fondazione IRCCS Casa Sollievo della Sofferenza, Cytogenetics Unit, San Giovanni Rotondo, FG, Italy.Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers, France. EA 3808 NEUVACOD, Université de Poitiers, Poitiers, France.Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers, France. EA 3808 NEUVACOD, Université de Poitiers, Poitiers, France.Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers, France. Laboratoire de Neurosciences Experimentales et Cliniques, INSERM, Poitiers, France.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

32633079

Citation

Niclass, Tanguy, et al. "12q21 Deletion Syndrome: Narrowing the Critical Region Down to 1.6 Mb Including SYT1 and PPP1R12A." American Journal of Medical Genetics. Part A, 2020.
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.
Niclass, T., Le Guyader, G., Beneteau, C., Joubert, M., Pizzuti, A., Giuffrida, M. G., Bernardini, L., Gilbert-Dussardier, B., Bilan, F., & Egloff, M. (2020). 12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A. American Journal of Medical Genetics. Part A. https://doi.org/10.1002/ajmg.a.61734
Niclass T, et al. 12q21 Deletion Syndrome: Narrowing the Critical Region Down to 1.6 Mb Including SYT1 and PPP1R12A. Am J Med Genet A. 2020 Jul 6; PubMed PMID: 32633079.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A. AU - Niclass,Tanguy, AU - Le Guyader,Gwenael, AU - Beneteau,Claire, AU - Joubert,Madeleine, AU - Pizzuti,Antonio, AU - Giuffrida,Maria Grazia, AU - Bernardini,Laura, AU - Gilbert-Dussardier,Brigitte, AU - Bilan,Frederic, AU - Egloff,Matthieu, Y1 - 2020/07/06/ PY - 2020/03/20/received PY - 2020/05/04/revised PY - 2020/05/21/accepted PY - 2020/7/8/entrez KW - 12q21 deletion KW - PPP1R12A KW - SYT1 KW - array CGH JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A N2 - Deletions in the 12q21 region are rare and non-recurrent CNVs. To date, only 11 patients with deletions in this region have been reported in the literature. These patients most often presented with syndromic intellectual deficiency, ventriculomegaly or hydrocephalus, ectodermal abnormalities, growth retardation and renal and cardiac malformations, suggesting a recognizable microdeletion syndrome. We report three new patients with overlapping deletions of the 12q21 region, including the smallest deletion reported to date and the first case characterized by array CGH during pregnancy. We describe specific clinical findings and shared facial features as developmental delay, ectodermal abnormalities, ventriculomegaly or hydrocephalus, axial hypotonia or spastic diplegia, growth retardation, heart defect, hydronephrosis, ureteral reflux or horseshoe kidney, large thorax or pectus excavatum, syndactyly of 2-3 toes, pterygium coli or excess nuchal skin, large anterior fontanel, low set ears, prominent forehead, short-upturned nose with nostril hypoplasia, microretrognathia and hypertelorism. These new patients and a comprehensive review of the literature allow us to define a minimum critical region spanning 1.6 Mb in 12q21. By screening the critical region using prediction tools, we identified two candidate genes: SYT1and PPP1R12A. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/32633079/12q21_deletion_syndrome:_Narrowing_the_critical_region_down_to_1.6_Mb_including_SYT1_and_PPP1R12A L2 - https://doi.org/10.1002/ajmg.a.61734 DB - PRIME DP - Unbound Medicine ER -