Description of a patient with developmental delay and dysmorphic features caused by a novel SHANK2 deletion

被引：0
|
作者：
Herranz, David Molina [1 ]
Sanchez, Amelia Moreno [1 ]
Marcen, Gema Carmen [1 ]
Salvador, Belen Salinas [1 ]
Delgado, Raquel Perez [1 ]
Alvarez, Silvia Izquierdo [2 ]
机构：
[1] Hosp Univ Miguel Servet, Serv Pediat, Secc Neuropediat & Metab, P Isabel Catolica 1-3, Zaragoza 50009, Spain
[2] Hosp Univ Miguel Servet, Serv Bioquim Clin, Secc Genet Clin, Zaragoza, Spain
来源：
EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS | 2023年 / 24卷 / 01期
关键词：
Autism spectrum disorder; Comparative genomic hybridization array; Dysmorphic features; SHANK2; AUTISM SPECTRUM DISORDER; MUTATIONS; GENE; VARIANTS;
D O I：
10.1186/s43042-023-00462-6
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
BackgroundThe SHANK gene, located on chromosome 11q13.3-q13.4, encodes the SHANK2 protein with a function in neuronal synapses. An error in coding can alter the development of typical cognitive, linguistic and social skills. However, its alteration produces a phenotype that has yet to be fully defined.Case presentationWe present the case of a patient diagnosed with a deletion in the SHANK2 gene as an infant and its subsequent evolution, including a description and iconography of the phenotype. Similar copy number variations (CNVs) are described in the literature, but none with the length of our patient's copy number.ConclusionsThis work broadens the phenotypic and genotypic spectrum associated with the SHANK2 gene, which promotes the genetic diagnosis of the disease.
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页数：6
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