Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement

被引：22

作者：

Pascolini, Giulia ^{[1
]}

Agolini, Emanuele ^{[2
]}

Majore, Silvia ^{[1
]}

Novell, Antonio ^{[2
]}

Grammatico, Paola ^{[1
]}

Digilio, Maria Cristina ^{[3
]}

机构：

[1] Sapienza Univ, San Camillo Forlanini Hosp, Dept Mol Med, Med Genet Lab, Circonvallaz Gianicolense 87, I-00152 Rome, Italy

[2] Bambino Gesu Paediat Hosp, IRCCS, Med Genet Lab, Rome, Italy

[3] Bambino Gesu Paediat Hosp, IRCCS, Med Genet Unit, Rome, Italy

来源：

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY | 2018年 / 22卷 / 03期

关键词：

Helsmoortel-Van der Aa Syndrome (HVDAS); Neurodevelopmental delay; Intellectual disability (ID); Autism Spectrum Disorder (ASD); ADNP gene; DEPENDENT-NEUROPROTECTIVE-PROTEIN; OHDO SYNDROME; ADNP GENE; MUTATIONS; PHENOTYPE; PEPTIDE;

D O I：

10.1016/j.ejpn.2018.01.024

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A recent syndromic condition with craniofacial dysmorphisms, comprising congenital ocular defect and neurodevelopmental delay named Helsmoortel-Van der Aa Syndrome (HVDAS) (OMIM#615873), has been described and molecularly defined, identifying pathogenic mutations in the ADNP gene (OMIM#611386) as biological cause. We report on two children, displaying intellectual disability (ID) and peculiar congenital eyes anomalies, both carrying a de novo nonsense mutation in the ADNP gene. The review of present and literature reports, suggests that the diagnosis of HVDAS should be suspected in patients with ID accompanied by behavioral features in the Autism Spectrum Disorder and distinctive craniofacial phenotype. Among dysmorphisms due to malformation of the periorbital region, ptosis appears to be particularly recurrent in HVDAS. Furthermore, the present patients could support the inclusion of the HVDAS associated with specific mutations clustering within a small ADNP genomic region among clinical conditions reminiscent of the blepharophimosis/mental retardation syndromes (BMRS). (C) 2018 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

引用

页码：552 / 557

页数：6

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