与遗传性15q13微重复相关的msl2相关脑室肥大的产前诊断

IF 2.3 3区 医学 Q2 GENETICS & HEREDITY
Omar Zgheib, Thomas Rio Frio, Jean-Marie Pellegrinelli, Stefania Gimelli, Caterina Marconi, Delphine Le Mercier, Monica Rebollo Polo, Céline Habre, Joël Fluss, Russia Ha-Vinh Leuchter, Marc Abramowicz, Rosalinda Giannini, Siv Fokstuen
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引用次数: 0

摘要

最近有报道称,男性特异性致死2同源基因(MSL2)与一种新型的、相当严重的神经发育综合征(包括大脑异常)有关。我们报告了第一例由新生MSL2剪接变异(c.142+1G>T)引起的MSL2相关病理的产前病例。对羊水细胞的RNA研究显示内含子包涵和移码,与功能丧失不耐受一致。胎儿表现为双侧中度脑室增大,同时携带父亲遗传的15q13微重复基因。2个月和4个月大时的脑MRI显示稳定的轻度侧脑室增大。11个月时的临床评估显示只有轻微的发育迟缓。本病例说明了在有限的文献病例中预测最近特征性综合征的产后结局的挑战,特别是与第二个独立的遗传异常有关。为了更好地确定这一首次报道的MSL2剪接突变与15q13微重复结合对发育的影响,随访将是至关重要的,对更多MSL2突变患者的表征将有助于扩大表型谱。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Prenatal Diagnosis of MSL2-Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication.

The Male-Specific Lethal 2 Homolog (MSL2) gene was recently reported to be responsible for a novel, rather severe neurodevelopmental syndrome including brain abnormalities. We report the first prenatal case of an MSL2-related pathology caused by a de novo MSL2 splice variant (c.142+1G>T). RNA study on amniotic fluid cells showed an intronic inclusion and frameshift, consistent with loss-of-function intolerance. The fetus, who presented with bilateral moderate ventriculomegaly, also carried a paternally inherited 15q13 microduplication. Brain MRI at 2 and 4 months of age showed stable, mildly enlarged lateral ventricles. Clinical evaluation at 11 months revealed only a mild developmental delay. This case illustrates the challenges in predicting the postnatal outcome of recently characterized syndromes with limited documented cases, especially in association with a second independent genetic anomaly. Follow-up will be crucial to better define the developmental impact of this first reported MSL2 splice mutation in combination with the 15q13 microduplication, and characterization of more patients with MSL2 mutations will contribute to expanding the phenotypic spectrum.

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来源期刊
Clinical Genetics
Clinical Genetics 医学-遗传学
CiteScore
6.50
自引率
0.00%
发文量
175
审稿时长
3-8 weeks
期刊介绍: Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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