A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes.
A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes.
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DOI：
10.1186/s12920-021-00934-x
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发表时间：
2021-04-08
影响因子：
2.7
通讯作者：
Fontana A
中科院分区：
文献类型：
--
作者：
Nardello R;Antona V;Mangano GD;Salpietro V;Mangano S;Fontana A
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. 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. 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. The online version contains supplementary material available at 10.1186/s12920-021-00934-x.
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影响因子：
3.9
作者：
Goin-Kochel RP;Trinh S;Barber S;Bernier R
通讯作者：
Bernier R
影响因子：
9.8
作者：
Laumonnier, F;Bonnet-Brilhault, F;Briault, S
通讯作者：
Briault, S
Pcdh11x 负向调节树突分支
影响因子：
3.1
作者：
Wu, Cuiying;Niu, Lijun;Xu, Ruxiang
通讯作者：
Xu, Ruxiang
影响因子：
2.1
作者：
Matsumoto, Fumi;Matsuyama, Satoko;Matsuoka, Keiko
通讯作者：
Matsuoka, Keiko
影响因子：
3.3
作者：
Kim, S.-Y.;Chung, H. Sun;Kim, H.
通讯作者：
Kim, H.