Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series

作者：Yasuda Yuka; Hashimoto Ryota^*; Fukai Ryoko; Okamoto Nobuhiko; Hiraki Yoko; Yamamori Hidenaga; Fujimoto Michiko; Ohi Kazutaka; Taniike Masako; Mohri Ikuko; Nakashima Mitsuko; Tsurusaki Yoshinori; Saitsu Hirotomo; Matsumoto Naomichi; Miyake Noriko; Takeda Masatoshi

来源：Annals of General Psychiatry, 2014, 13(1): 22.

DOI：10.1186/s12991-014-0022-2

• Autism spectrum disorder
• Copy-number variants
• Duplication
• Nephronophthisis 1 gene
• Intelligence

Autism spectrum disorder is a neurodevelopmental disorder characterized by impairments in social interactions, reduced verbal communication abilities, stereotyped repetitive behaviors, and restricted interests. It is a complex condition caused by genetic and environmental factors; the high heritability of this disorder supports the presence of a significant genetic contribution. Many studies have suggested that copy-number variants contribute to the etiology of autism spectrum disorder. Recently, copy-number variants of the nephronophthisis 1 gene have been reported in patients with autism spectrum disorder. To the best of our knowledge, only six autism spectrum disorder cases with duplications of the nephronophthisis 1 gene have been reported. These patients exhibited intellectual dysfunction, including verbal dysfunction in one patient, below-average verbal intellectual ability in one patient, and intellectual disability in four patients. %26lt;br%26gt;In this study, we identified nephronophthisis 1 duplications in two unrelated Japanese patients with autism spectrum disorder using a high-resolution single-nucleotide polymorphism array. This report is the first to describe a nephronophthisis 1 duplication in an autism spectrum disorder patient with an average verbal intelligence quotient and an average performance intelligence quotient. However, the second autism spectrum disorder patient with a nephronophthisis 1 duplication had a below-average performance intelligence quotient. Neither patient exhibited physical dysfunction, motor developmental delay, or neurological abnormalities. This study supports the clinical observation of nephronophthisis 1 duplication in autism spectrum disorder cases and might contribute to our understanding of the clinical phenotype that arises from this duplication.

• 出版日期2014-8-6