Genomic Deletion Involving the IMMP2L Gene in Two Cases of Autism Spectrum Disorder

被引：11

作者：

Baldan, Federica ^{[1
]}

Gnan, Chiara ^{[2
]}

Franzoni, Alessandra ^{[3
]}

Ferino, Lucia ^{[2
]}

Allegri, Lorenzo ^{[2
]}

Passon, Nadia ^{[3
]}

Damante, Giuseppe ^{[2
,3
]}

机构：

[1] Univ Rome Sapienza, Dept Internal Med & Med Specialties, Rome, Italy

[2] Univ Udine, Dept Med Area, Ple Kolbe 4, IT-33100 Udine, Italy

[3] Acad Hosp Udine, Inst Med Genet, Udine, Italy

来源：

CYTOGENETIC AND GENOME RESEARCH | 2018年 / 154卷 / 04期

关键词：

Array-CGH; Autism; Interstitial microdeletion 7q; COPY NUMBER VARIATION; TOURETTE-SYNDROME; IMMP2L GENE; DEVELOPMENTAL DELAY; ASSOCIATION; MUTATION; FAMILY; MICE;

D O I：

10.1159/000489001

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Mutations/deletions of the IMMP2L gene have been associated with different cognitive/behavioral disturbances, including autism spectrum disorders (ASD). The penetrance of these defects is not complete since they often are inherited from a healthy parent. Using array-CGH in a cohort of 37 ASD patients, we found 2 subjects harboring a deletion inside the IMMP2L gene. In both cases, the IMMP2L gene deletion was inherited: from a healthy mother in one case and from a dyslectic father in the other. In the latter family, the IMMP2L deletion was also detected in the patient's brother, who showed delayed language development. In a cohort of 100 normal controls, no deletions including the IMMP2L gene were observed. However, a recent meta-analysis found no association between IMMP2L deletions and ASD. Our data would indicate that deletions involving the IMMP2L gene may contribute to the development of a subgroup of cognitive/behavioral disorders. (C) 2018 S. Karger AG, Basel.

引用

页码：196 / 200

页数：5

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