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A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome
被引:11
|作者:
Alesi, Viola
[1
]
Loddo, Sara
[1
]
Cali, Federica
[2
]
Orlando, Valeria
[1
]
Genovese, Silvia
[1
]
Ferretti, Daniele
[1
]
Calacci, Chiara
[1
]
Calvieri, Giusy
[1
]
Falasca, Roberto
[1
]
Ulgheri, Lucia
[3
]
Drago, Fabrizio
[2
]
Dallapiccola, Bruno
[1
]
Baban, Anwar
[2
]
Novelli, Antonio
[1
]
机构:
[1] Bambino Gesu Pediat Hosp, Dept Med Genet, IRCCS, Rome, Italy
[2] Bambino Gesu Pediat Hosp, Dept Pediat Cardiol & Cardiac Surg, IRCCS, Rome, Italy
[3] Azienda Osped Univ, Dept Biomed Sci, Clin Genet Serv, Sassari, Italy
基金:
英国惠康基金;
关键词:
12q15;
12q deletion syndrome;
CNOT2;
INTERSTITIAL DELETION;
D O I:
10.1002/ajmg.a.61217
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
Only a few individuals with 12q15 deletion have been described, presenting with a disorder characterized by learning disability, developmental delay, nasal speech, and hypothyroidism. The smallest region of overlap for this syndrome was included in a genomic segment spanning CNOT2, KCNMB4, and PTPRB genes. We report on an additional patient harboring a 12q15 microdeletion encompassing only part of CNOT2 gene, presenting with a spectrum of clinical features overlapping the 12q15 deletion syndrome phenotype. We propose CNOT2 as the phenocritical gene for 12q15 deletion syndrome and its haploinsufficiency being associated with an autosomal dominant disorder, presenting with developmental delay, hypotonia, feeding problems, learning difficulties, nasal speech, skeletal anomalies, and facial dysmorphisms.
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页码:1615 / 1621
页数:7
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