A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation.
A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation.
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双侧膈肌缺损男性中 CALN1 的从头缺失并不一定会导致这种畸形。
DOI：
10.1002/ajmg.a.34002
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发表时间：
2011
期刊：
影响因子：
--
通讯作者：
Adam,MargaretP
中科院分区：
文献类型：
--
作者：
Slavotinek,AnneM;Rosenfeld,JillA;Chao,Ryan;Niyazov,Dimitry;Eswara,Marthand;Bader,PatriciaI;Stockton,DavidW;Stankiewicz,Pawel;Adam,MargaretP
The calneuron 1 (CALN1; OMIM 607176) gene is located at chromosome 7q11. 22, close to and proximal to the Williams syndrome critical region. CALN1 is highly related to members of the calmodulin superfamily [Wu et al., 2001], and although little is known regarding its function, it has been presumed to be important in calcium binding because of the presence of two conserved EF hand motifs [Wu et al., 2001]. CALN1 expression in humans is strongest in the brain, and it has been hypothesized to play a role in calcium signaling or regulation in neurons and thus to be important for memory formation and/or learning [Wu et al., 2001]. We report on a male with a de novo, 1.1 Mb deletion that also interrupted the WBSCR17 and TYW1B genes in addition to deleting CALN1. He had a bilateral diaphragmatic defect for which there was no other obvious syndromic explanation. Four additional patients with CALN1 deletions without CDH who each inherited their deletion from a normal parent are also described (for patient summaries, see Table I).The first propositus was a 17-month-old male diagnosed prenatally with a left congenital diaphragmatic hernia (CDH) by an ultrasound scan. The hernia was surgically repaired at 10 days of age, and the operative report noted nearly complete absence of the diaphragm with preservation of a small ridge of diaphragm tissue on the anterior medial surface. He required nasogastric feeding and supplemental oxygen and a gastrostomy tube was inserted at 11 months of age for oral aversion and aspiration. He had a small ventriculoseptal defect for which surgery was not required. He had no seizures and a magnetic resonance imaging (MRI) study of his
