SAMD9基因新发突变引起新生儿MIRAGE综合征1例

doi:10.3969/j.issn.1674-8115.2022.11.019

上海交通大学学报（医学版） ›› 2022, Vol. 42 ›› Issue (11): 1644-1648.doi: 10.3969/j.issn.1674-8115.2022.11.019

• 病例报告 • 上一篇

SAMD9基因新发突变引起新生儿MIRAGE综合征1例

李雅慧(), 王依闻, 谢利娟()

上海交通大学医学院附属新华医院新生儿科，上海 200092

收稿日期:2022-05-12 接受日期:2022-10-14 出版日期:2022-11-28 发布日期:2023-01-04
通讯作者: 谢利娟 E-mail:liyahui@xinhuamed.com.cn;xlj68115@sina.com
作者简介:李雅慧（1990—），女，主治医师，硕士；电子信箱：liyahui@xinhuamed.com.cn.

A case of neonatal MIRAGE syndrome caused by novel mutation of SAMD9 gene

LI Yahui(), WANG Yiwen, XIE Lijuan()

Department of Neonatology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China, 200092

Received:2022-05-12 Accepted:2022-10-14 Online:2022-11-28 Published:2023-01-04
Contact: XIE Lijuan E-mail:liyahui@xinhuamed.com.cn;xlj68115@sina.com

摘要/Abstract

摘要：

新生儿，女，胎龄30周时因“羊水少、宫内发育迟缓”剖宫产出生，生后出现严重的呼吸窘迫、严重低血压、电解质糖代谢紊乱，以及伴有皮肤色素沉着等肾上腺皮质功能不全的表现。患儿病情危重，生后5 d因多脏器功能衰竭抢救无效死亡。基因分析显示患儿SAMD9基因有新发杂合变异c.4598G>A（p.Arg1533Gln），结合相关临床症状诊断为MIRAGE综合征（myelodysplasia，infection，restriction of growth，adrenal hypoplasia，genital phenotypes，and enteropathy，MIRAGE syndrome）。MIRAGE综合征可累及多系统，病情危重复杂，早期基因检查识别可指导治疗、改善预后。

关键词: MIRAGE综合征, SAMD9基因, 肾上腺皮质功能不全, 新生儿

Abstract:

A female newborn, delivered by cesarean section for oligohydramnios and severe intrauterine growth retardation at gestational age of 30 weeks. She presented progressive severe respiratory distress and symptoms of adrenal insufficiency, such as hyperpigmentation, hypotension, disorder of electrolyte and glucose metabolism soon after birth. The newborn died at the fifth day because of multiple organ failure. Gene analysis showed that there was heterozygous variant in the SAMD9 gene of the newborn (c.4598G>A, p.Arg1533Gln) and she was diagnosed with MIRAGE syndrome (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy). MIRAGE syndrome is usually complex and critical with multisystem disorder. Early identification with genetic testing can help diagnosis and guide treatment, which can improve the prognosis.

Key words: MIRAGE syndrome, SAMD9 gene, Adrenal insufficiency, Newborn

中图分类号:

R722.11

李雅慧, 王依闻, 谢利娟. SAMD9基因新发突变引起新生儿MIRAGE综合征1例[J]. 上海交通大学学报（医学版）, 2022, 42(11): 1644-1648.

LI Yahui, WANG Yiwen, XIE Lijuan. A case of neonatal MIRAGE syndrome caused by novel mutation of SAMD9 gene[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2022, 42(11): 1644-1648.

图/表 2

图1 患儿的皮肤色素沉着表现Note： A. The newborn before umbilical cord ligation. B. The newborn on the first day of life.

Fig1 Skin hyperpigmentation in the newborn

图2 患儿遗传学分析Note： A. Sanger sequences of the SAMD9 gene in the patient and parents. A heterozygous de novo variant (c.4598 G>A) was found in the patient. B. Pedigrees of the patient was shown. C. Conservation of SAMD9 protein sequence across multiple species, with the location of the p. Arg1533Gln mutation shown by arrow.

Fig 2 Genetic features of the patient.

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SAMD9基因新发突变引起新生儿MIRAGE综合征1例

A case of neonatal MIRAGE syndrome caused by novel mutation of SAMD9 gene

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