新的RPS6KA3突变导致两名患者出现Coffin-Lowry综合征，其中一名患者同时出现强迫性拉眉毛行为。

IF 1.5 4区医学 Q4 GENETICS & HEREDITY

Psychiatric Genetics Pub Date : 2022-10-01 DOI:10.1097/YPG.0000000000000323

Semra Gürsoy, Filiz Hazan, Elif Çetinoğlu

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引用次数: 0

摘要

Coffin-Lowry综合征(CLS)是一种罕见的x连锁疾病，通常影响男性，表现为智力残疾、身材矮小、生长迟缓、手短、手指过度伸展和进行性脊柱后凸。由于X染色体失活偏斜，女性患者的临床表现差异很大，临床表现从轻度智力残疾到男性CLS的典型特征不等。在这里，我们报道了两个不相关的CLS患者中两种不同的新型RPS6KA3基因突变，并首次在文献中描述了其中一个病例中伴随的强迫性拉眉毛行为。

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Novel RPS6KA3 mutations cause Coffin-Lowry syndrome in two patients and concurrent compulsive eyebrow-pulling behavior in one of them.

Coffin-Lowry syndrome (CLS) is a rare X-linked disorder that, usually affects males, presenting with intellectual disability, short stature, growth retardation, short hands, hyperextensible fingers and progressive kyphoscoliosis. Due to skewed X chromosome inactivation, the clinical presentations of the affected females vary greatly and clinical manifestations could range from mild intellectual disability to typical features of CLS in males. Here, we reported two different novel RPS6KA3 gene mutations in two unrelated CLS patients and also described concomitant compulsive eyebrow-pulling behavior in one of these cases for the first time in the literature.

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来源期刊

Psychiatric Genetics 医学-神经科学

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

3 months

期刊介绍： The journal aims to publish papers which bring together clinical observations, psychological and behavioural abnormalities and genetic data. All papers are fully refereed. Psychiatric Genetics is also a forum for reporting new approaches to genetic research in psychiatry and neurology utilizing novel techniques or methodologies. Psychiatric Genetics publishes original Research Reports dealing with inherited factors involved in psychiatric and neurological disorders. This encompasses gene localization and chromosome markers, changes in neuronal gene expression related to psychiatric disease, linkage genetics analyses, family, twin and adoption studies, and genetically based animal models of neuropsychiatric disease. The journal covers areas such as molecular neurobiology and molecular genetics relevant to mental illness. Reviews of the literature and Commentaries in areas of current interest will be considered for publication. Reviews and Commentaries in areas outside psychiatric genetics, but of interest and importance to Psychiatric Genetics, will also be considered. Psychiatric Genetics also publishes Book Reviews, Brief Reports and Conference Reports.