MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency.
MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency.
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幻影综合征是46，XY DSD出生的SGA的罕见原因，而没有肾上腺不足。
DOI：
10.1371/journal.pone.0206184
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发表时间：
2018
期刊：
影响因子：
3.7
通讯作者：
Narumi S
中科院分区：
文献类型：
--
作者：
Shima H;Hayashi M;Tachibana T;Oshiro M;Amano N;Ishii T;Haruna H;Igarashi M;Kon M;Fukuzawa R;Tanaka Y;Fukami M;Hasegawa T;Narumi S
偏头痛综合征是一种由致病性SAMD 9变异引起的先天性多系统疾病，描述了一系列临床特征，包括46，XY性发育障碍（DSD），小于胎龄儿（SGA）和肾上腺功能不全（AI）。尚不清楚SAMD 9变体是否是46，XY DSD患者出生SGA（46，XY DSD SGA）而无AI的基础。本研究旨在确定46，XY DSD SGA中SAMD 9变异体的频率和表型，无AI。入选49例无AI病史的46，XY DSD SGA（Quigley量表，2 - 6;胎龄匹配的出生体重百分位数，<10）日本患者。对每例患者进行SAMD 9的单个编码外显子PCR扩增和测序。在体外验证了鉴定的变体的致病性。从携带变体的患者以及从另一个先前描述的患者获得胎盘组织，并进行组织学分析。在1例46，XY DSD SGA患者中，鉴定出一种新的杂合SAMD 9变体，p.Phe1017Val。实验证实了突变体的致病性。除DSD和SGA外，该患者还患有新生儿血小板减少症、严重的出生后生长受限、慢性腹泻和感染易感性，所有特征均与MINUS一致，导致14月龄时过早死亡。患者没有任何提示AI的表现或实验室检查结果。两名携带变异体的患者的胎盘组织的特点是远端绒毛发育不良，而没有其他母亲灌注不足的发现。癫痫综合征是一种罕见的46，XY DSD SGA的原因没有AI。这项研究证实，AI是一个共同的特点，但AI的缺乏不应该排除诊断的综合征。
MIRAGE syndrome, a congenital multisystem disorder due to pathogenic SAMD9 variants, describes a constellation of clinical features including 46,XY disorders of sex development (DSD), small for gestational age (SGA) and adrenal insufficiency (AI). It is poorly understood whether SAMD9 variants underlie 46,XY DSD patients born SGA (46,XY DSD SGA) without AI. This study aimed to define the frequency and phenotype of SAMD9 variants in 46,XY DSD SGA without AI. Forty-nine Japanese patients with 46,XY DSD SGA (Quigley scale, 2 to 6; gestational age-matched birth weight percentile, <10) without history of AI were enrolled. The single coding exon of SAMD9 was PCR-amplified and sequenced for each patient. Pathogenicity of an identified variant was verified in vitro. Placenta tissues were obtained from the variant-carrying patient, as well as from another previously described patient, and were analyzed histologically. In one 46,XY DSD SGA patient, a novel heterozygous SAMD9 variant, p.Phe1017Val, was identified. Pathogenicity of the mutant was experimentally confirmed. In addition to DSD and SGA, the patient had neonatal thrombocytopenia, severe postnatal grow restriction, chronic diarrhea and susceptibility to infection, all features consistent with MIRAGE, leading to premature death at age 14 months. The patient did not have any manifestations or laboratory findings suggesting AI. Placenta tissues of the two variant-carrying patients were characterized by maldevelopment of distal villi without other findings of maternal underperfusion. MIRAGE syndrome is a rare cause of 46,XY DSD SGA without AI. This study exemplifies that AI is a common feature of MIRAGE syndrome but that the absence of AI should not rule out a diagnosis of the syndrome.
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DOI：
10.1210/jc.2015-3250
发表时间：
2016-01
期刊：
The Journal of clinical endocrinology and metabolism
影响因子：
--
作者：
Guran T;Buonocore F;Saka N;Ozbek MN;Aycan Z;Bereket A;Bas F;Darcan S;Bideci A;Guven A;Demir K;Akinci A;Buyukinan M;Aydin BK;Turan S;Agladioglu SY;Atay Z;Abali ZY;Tarim O;Catli G;Yuksel B;Akcay T;Yildiz M;Ozen S;Doger E;Demirbilek H;Ucar A;Isik E;Ozhan B;Bolu S;Ozgen IT;Suntharalingham JP;Achermann JC
通讯作者：
Achermann JC
影响因子：
4.8
作者：
Ingle, DJ;Higgins, GM
通讯作者：
Higgins, GM
DOI：
10.1172/jci91913
发表时间：
2017-05-01
期刊：
The Journal of clinical investigation
影响因子：
--
作者：
Buonocore F;Kühnen P;Suntharalingham JP;Del Valle I;Digweed M;Stachelscheid H;Khajavi N;Didi M;Brady AF;Blankenstein O;Procter AM;Dimitri P;Wales JKH;Ghirri P;Knöbl D;Strahm B;Erlacher M;Wlodarski MW;Chen W;Kokai GK;Anderson G;Morrogh D;Moulding DA;McKee SA;Niemeyer CM;Grüters A;Achermann JC
通讯作者：
Achermann JC
影响因子：
30.8
作者：
Arboleda VA;Lee H;Parnaik R;Fleming A;Banerjee A;Ferraz-de-Souza B;Délot EC;Rodriguez-Fernandez IA;Braslavsky D;Bergadá I;Dell'Angelica EC;Nelson SF;Martinez-Agosto JA;Achermann JC;Vilain E
通讯作者：
Vilain E
DOI：
10.1093/bioinformatics/btp698
发表时间：
2010-03-01
期刊：
Bioinformatics (Oxford, England)
影响因子：
--
作者：
Li H;Durbin R
通讯作者：
Durbin R