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. 2017 May 9;7:1625. doi: 10.1038/s41598-017-01637-z

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© The Author(s) 2017

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Clinical features of the patients and family 2 with the c.71 C > T, p.P24L; c.134 G > A, p.W45* in ADSL. (A) Pedigree structure of the studied family 2. In the family 2, WES was performed in I:1, I:2, II:2. Also, the compound heterozygous mutations were presented in the pedigree. (B) The PCR products were sequenced with the reverse primers (ADSL c.71 C > T, p.P24L; c.134 G > A, p.W45*). (C) Both of the patients have obvious hypotonia (could not sit by himself), autistic features (lack of eye-to-eye contact, repetitive movements, impaired verbal communication, etc.), etc. (3-year old). (D) EEG of the patients show the abnormal multifocal spike and ware wave in the proband (Left) and II 3 (Right).