17p13.3 Microdeletion: Insights on Genotype-Phenotype Correlation

被引：23

作者：

Barros Fontes, Marshall I. ^{[1
,4
]}

dos Santos, Ana P. ^{[1
]}

Torres, Fabio Rossi ^{[1
]}

Lopes-Cendes, Iscia ^{[1
]}

Cendes, Fernando ^{[2
]}

Appenzeller, Simone ^{[3
]}

de Araujo, Tania Kawasaki ^{[1
]}

Monlleo, Isabella Lopes ^{[5
]}

Gil-da-Silva-Lopes, Vera L. ^{[1
]}

机构：

[1] Univ Estadual Campinas, UNICAMP, Sch Med Sci, Dept Med Genet, Campinas, SP, Brazil

[2] Univ Estadual Campinas, UNICAMP, Sch Med Sci, Dept Neurol, Campinas, SP, Brazil

[3] Univ Estadual Campinas, UNICAMP, Sch Med Sci, Dept Internal Med, Campinas, SP, Brazil

[4] State Univ Hlth Sci Alagoas UNCISAL, Med Genet Sect, Maceio, Brazil

[5] Fed Univ Alagoas UFAL, Univ Hosp, Fac Med, Clin Genet Serv, Macei, Brazil

来源：

MOLECULAR SYNDROMOLOGY | 2017年 / 8卷 / 01期

基金：

巴西圣保罗研究基金会;

关键词：

Behavioral disorder; Deletion; 17p13.3; Microarray; Neurodevelopmental delay; Palatogenesis; MILLER-DIEKER-SYNDROME; INCLUDING YWHAE; DELETION; 14-3-3-EPSILON; REGION;

D O I：

10.1159/000452753

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Microdeletions in the chromosomal region 17p13.3 are associated with neuronal migration disorders, and PAFAB1H1 is the main gene involved. The largest genomic imbalances, including the YWHAE and CRK genes, cause more severe structural abnormalities of the brain and other associated dysmorphic features. Here, we describe a 3-year-old boy with a microdeletion in 17p13.3 presenting with minor facial dysmorphisms, a cleft palate, neurodevelopmental delay, and behavioral disorder with no structural malformation of the brain. The patient was evaluated by a clinician using a standard protocol. Laboratory investigation included GTGbanding, whole-genome AGH, and array-CGH. Whole-genome AGH and array-CGH analysis identified an estimated 2.1-Mb deletion in the 17p13.3 region showing haploinsufficiency of the YWHAE, CRK, H1C1, and OVCA1 genes and no deletion of PAFAH1B1. The complex gene interaction on brain development and function is illustrated in the geno-type-phenotype correlation described here. This report reinforces the importance of the 17p13.3 region in developmental abnormalities and highlights the weak implication of the HIC1 and OVCA1 genes in palatogenesis. (C) 2016 S. Karger AG, Basel

引用

页码：36 / 41

页数：6

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