TY - JOUR
T1 - 12q21 deletion syndrome
T2 - 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
PY - 2020/9/1
Y1 - 2020/9/1
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.
AB - 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.
KW - 12q21 deletion
KW - array CGH
KW - PPP1R12A
KW - SYT1
UR - http://www.scopus.com/inward/record.url?scp=85087566083&partnerID=8YFLogxK
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U2 - 10.1002/ajmg.a.61734
DO - 10.1002/ajmg.a.61734
M3 - Article
C2 - 32633079
AN - SCOPUS:85087566083
VL - 182
SP - 2133
EP - 2138
JO - Am. J. Med. Genet. Part A
JF - Am. J. Med. Genet. Part A
SN - 1552-4825
IS - 9
ER -