一份来自巴黎路透社 (PARIS Reuters)的消息指出，法国的科学家经由罹患自闭症 (autism)病童的遗传序列，找到了和自闭症发生有高度相关的基因突变，相关的人士认为这一个发现，应该有助于了解这个疾病发生的原因。
据了解这次研究人员的研究目标，放在俗称泛自闭症障碍症候群 (autism spectrum disorders；简称 ASD)的身上，据统计这种疾病的患者多在 30个月大左右，就会出现一些临床上的特征，像是语言或行为上的障碍等，不过由于这个年纪的病童，正值生长发育与学习的关键时期，因此这样的疾病往往导致严重的学习障碍，高度的影响社交能力。临床上还有发现少数这类的病童中，虽然被自闭症所困扰，但在像是艺术、音乐与数理能力上，有异于其它孩童的成就，但这毕竟是少数的特例，目前科学家不但不能掌握真正导致发病的原因，就连临床医师也没有有效治疗的方法，可以避免这个疾病的发生。
这次法国巴斯德研究所 (Pasteur Institute)Thomas Bourgeron博士所领导的研究团队，追踪分析了 200名泛自闭症障碍症候群患者的遗传序列，研究人员发现一个称为 SHANK3的基因突变，重复的出现在 3个多人罹患自闭症的家族里，虽然家族个体间拥有着程度不一的泛自闭症障碍症候群，但他们共有的特征是 SHANK3基因的缺失，目前研究人员虽然只掌握到这个基因缺陷的特征，但这个发现也使的自闭症的治疗，露出了解开迷团的曙光。
英文原文：
Scientists identify gene mutation in autism
French scientists have identified genetic mutations in a small number of children with autism which could provide insight into the biological basis of the disorder.
They sequenced a gene called SHANK3 in more than 200 people with autism spectrum disorders (ASD), which includes autism, and found mutations in the gene in members of three families.
ASD covers a range of problems that affect communication, social interaction, verbal skills and behavior.
"These mutations concern only a small number of individuals, but they shed light on one gene ... that is involved in autism spectrum disorders," Thomas Bourgeron, of the Pasteur Institute in Paris, said in a report in the journal Nature Genetics.
ASD, which affect six out of 1,000 children, range from mild to severe forms. The disorders are caused by chromosomal rearrangements in 3 to 6 percent of cases.
In people with cognitive deficits and with autistic behavior a part of their chromosome 22 is often affected. That region contains the SHANK3 gene.
In all three families identified in the study, the researchers found they had various types of mutations in the gene. Two brothers in one family had small deletions, while another child in a different family had significant deletions.
A girl with a deletion of SHANK 3 in the third family suffered from autism while her brother, who had an additional copy of the gene, had a mild form of autism called Asperger syndrome.
The cause of autism is unknown. It usually develops before the age of 30 months. A minority of autistic children, who are known as autistic savants, show remarkable artistic, musical or mathematical skills.
The protein encoded by SHANK3 interacts with other proteins called neuroligins, which have a role in giving impulses to the brain, spinal column and nerves.
