神经变性伴脑铁积累5：附3例报告。

IF 1.6 4区医学 Q3 CLINICAL NEUROLOGY

Neurogenetics Pub Date : 2024-12-04 DOI:10.1007/s10048-024-00783-7

Sheyda Khalilian, Mohadeseh Fathi, Akram Ghahghaei-Nezamabadi, Mohammad Miryounesi, Soudeh Ghafouri-Fard

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引用次数: 0

摘要

神经变性伴脑铁积累5 （NBIA5）是一种独特的NBIA表型，由WDR45基因突变引起。这种疾病以x连锁的方式遗传。在此，我们报告三名伊朗患者。全外显子组测序显示，在这些病例中，WDR45基因中分别存在以下致病变异：c.697C > T (p.R233X), C .657_658del （p.F221X）和C .1004_1005del （p.Y335Cfs*5）。甲状腺功能减退2例。其他临床表现与文献报道病例无显著差异。所有病例均为从头发生。文献中也报道过类似的突变。目前的研究扩大了对上述人群中这种疾病的遗传学的见解。

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Neurodegeneration with brain iron accumulation 5: report of three cases.

Neurodegeneration with brain iron accumulation 5 (NBIA5) is a distinctive type of NBIA phenotype that is caused by mutations in the WDR45 gene. This disorder is inherited in an X-linked manner. Here, we report three Iranian cases affected with this condition. Whole-exome sequencing revealed the following pathogenic variants within WDR45 gene in these cases, respectively: c.697 C > T (p.R233X), c.657_658del (p.F221X) and c.1004_1005del (p.Y335Cfs*5). Hypothyroidism was detected in two cases. Other clinical manifestations did not significantly differ from cases reported in the literature. All cases occurred de novo. Similar mutations have been reported in the literature. The present study broadens the insight about the genetics of this disorder in the mentioned population.

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来源期刊

Neurogenetics 医学-临床神经学

CiteScore

3.90

自引率

0.00%

发文量

审稿时长

6 months

期刊介绍： Neurogenetics publishes findings that contribute to a better understanding of the genetic basis of normal and abnormal function of the nervous system. Neurogenetic disorders are the main focus of the journal. Neurogenetics therefore includes findings in humans and other organisms that help understand neurological disease mechanisms and publishes papers from many different fields such as biophysics, cell biology, human genetics, neuroanatomy, neurochemistry, neurology, neuropathology, neurosurgery and psychiatry. All papers submitted to Neurogenetics should be of sufficient immediate importance to justify urgent publication. They should present new scientific results. Data merely confirming previously published findings are not acceptable.