与 PCDH11Y 和 NLGN4Y 基因缺失相关的典型自闭症表型。
A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes.
机构信息
Child Neuropsychiatry Unit, Department Pro.M.I.S.E. "G. D'Alessandro", University of Palermo, Palermo, Italy.
Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
出版信息
BMC Med Genomics. 2021 Apr 8;14(1):98. doi: 10.1186/s12920-021-00934-x.
BACKGROUND
Most studies relative to Y chromosome abnormalities are focused on the sexual developmental disorders. Recently, a few studies suggest that some genes located on Y chromosome may be related to different neurodevelopment disorders.
CASE PRESENTATION
We report a child with sexual developmental disorder associated with a peculiar phenotype characterized by severe language impairment and autistic behaviour associated with a mosaicism [45,X(11)/46,XY(89)] and a partial deletion of the short and long arm of Y chromosome (del Yp11.31q11.23) that also involves the loss of both PCDH11Y and NLGN4Y genes. To our knowledge no study has ever reported the occurrence of the lack of both PCDH11Y and NLGN4Y located in the Y chromosome in the same patient.
CONCLUSIONS
We hypothesized a functional complementary role of PCDH11Y and NLGN4Y within formation/maturation of the cerebral cortex. The impairment of early language development may be mainly related to the lack of PCDH11Y that underlies the early language network development and the later appearance of the autistic behaviour may be mainly related to deficit of inhibitory glicinergic neurotransmission NLGN4Y-linked.
背景
大多数与 Y 染色体异常相关的研究都集中在性发育障碍上。最近，一些研究表明，Y 染色体上的一些基因可能与不同的神经发育障碍有关。
病例介绍
我们报告了一例伴有性发育障碍的儿童，其表型特征为严重的语言障碍和自闭症行为，伴有镶嵌体[45,X(11)/46,XY(89)]和 Y 染色体短臂和长臂的部分缺失（del Yp11.31q11.23），同时还缺失了 PCDH11Y 和 NLGN4Y 基因。据我们所知，尚无研究报道同一患者同时缺失位于 Y 染色体上的 PCDH11Y 和 NLGN4Y。
结论
我们假设 PCDH11Y 和 NLGN4Y 在大脑皮层的形成/成熟过程中具有功能互补作用。早期语言发育障碍可能主要与 PCDH11Y 的缺失有关，后者是早期语言网络发育的基础，而自闭症行为的后期出现可能主要与 NLGN4Y 相关的抑制性甘氨酸能神经传递缺陷有关。
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