A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing.
A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing.
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DOI：
10.1186/s12881-018-0546-4
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发表时间：
2018-03-05
影响因子：
--
通讯作者：
Yoo HW
中科院分区：
文献类型：
--
作者：
Kim YM;Seo GH;Kim GH;Ko JM;Choi JH;Yoo HW
肾上腺发育不良是一种罕见的先天性疾病，可分为无肾上腺外特征的非综合征型和具有肾上腺外特征的综合征型。尽管进行了生化和分子遗传学评估，但许多肾上腺发育不全患者无法进行病因诊断。这例患者是一名男婴，出生于妊娠31周，体重882微克(<；3%)，父母无血缘关系。生殖器检查显示小阴茎和双侧隐睾症。生后第3天出现低血压伴高尿量、低钠血症、高钾血症、高钠尿、血浆促肾上腺皮质激素水平升高、血浆肾素活性升高，提示急性肾上腺功能不全。血清17α-羟孕酮水平正常。在给予氢化可的松和9α-氟化可的松后，肾上腺功能不全得到改善，但患者在4个月大时死于反复感染。他被怀疑为影像(宫内发育迟缓、干骺端发育不良、肾上腺发育不全、先天性和生殖器畸形)综合征。但未发现CDKN1C基因突变。使用TruSight One测序板(Illumina)进行的靶向外显子测序发现了SAMD9基因外显子3中c.2944C >； T(p.R982C)的杂合突变。这份报告描述了韩国首例幻影综合征病例。患者表现为严重的原发性肾上腺功能不全、宫内发育迟缓和反复感染。对于存在肾上腺发育不良和肾上腺外表型的患者，应考虑SAMD9突变。
Adrenal hypoplasia is a rare congenital disorder, which can be classified into a non-syndromic form, without extra-adrenal features, and a syndromic form, with such features. Despite biochemical and molecular genetic evaluation, etiologic diagnosis cannot be performed in many patients with adrenal hypoplasia. The patient in this case was a boy born at 31 weeks of gestation with a weight of 882 g (< 3rd percentile) to non-consanguineous parents. Genital examination showed micropenis and bilateral cryptorchidism. On the third day of life, he manifested hypotension with high urine output, hyponatremia, hyperkalemia, hypernatriuria, high plasma adrenocorticotropic hormone level, and high plasma renin activity, suggesting acute adrenal insufficiency. The serum 17α-hydroxyprogesterone level was normal. Adrenal insufficiency improved following administration of hydrocortisone and 9α-fludrocortisone, but the patient died of recurrent infection at 4 months of age. He was suspected as IMAGE (Intrauterine growth restriction, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies) syndrome. However, no mutation in CDKN1C was identified. Targeted exome sequencing using the TruSight One Sequencing Panel (Illumina) identified a heterozygous mutation of c.2944C > T (p.R982C) in exon 3 in SAMD9. This report describes the first Korean case of MIRAGE syndrome. The patient presented with severe primary adrenal insufficiency, intrauterine growth retardation, and recurrent infection. SAMD9 mutation should be considered in patients who present with adrenal hypoplasia and extra-adrenal phenotypes.
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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：
4.4
作者：
Li CF;MacDonald JR;Wei RY;Ray J;Lau K;Kandel C;Koffman R;Bell S;Scherer SW;Alman BA
通讯作者：
Alman BA
影响因子：
5.8
作者：
Bornstein, Stefan R.;Allolio, Bruno;Torpy, David J.
通讯作者：
Torpy, David J.
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