CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.
CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.
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DOI：
10.1111/j.1399-0004.2008.01107.x
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发表时间：
2009-01
影响因子：
3.5
通讯作者：
Hoefsloot LH
中科院分区：
文献类型：
--
作者：
Jongmans MC;van Ravenswaaij-Arts CM;Pitteloud N;Ogata T;Sato N;Claahsen-van der Grinten HL;van der Donk K;Seminara S;Bergman JE;Brunner HG;Crowley WF Jr;Hoefsloot LH
卡尔曼综合征（KS）是低促性腺激素性性腺功能减退和嗅觉丧失或嗅觉减退的组合，这两个特征也经常出现在CHARGE综合征中。CHARGE综合征由CHD7基因突变引起。我们对36例KS患者和20例排除KAL 1、FGFR 1、PROK 2和PROKR 2基因突变的正常型特发性低促性腺激素性性腺功能减退症（nIHH）患者的CHD7进行了分析。56例KS/nIHH患者中有3例在CHD7中有新发突变。回顾过去，这三名CHD7阳性患者显示出CHARGE综合征的其他特征。CHD7突变可存在于具有CHARGE综合征表型的一部分的额外特征的KS患者中。我们在孤立性KS患者中未发现突变。这些发现意味着诊断为低促性腺激素性性腺功能减退和嗅觉缺失的患者应筛查与CHARGE综合征一致的临床特征。如果存在这些特征，特别是耳聋、畸形耳和/或半规管发育不全或发育不全，建议进行CHD7测序。
Kallmann syndrome (KS) is the combination of hypogonadotropic hypogonadism and anosmia or hyposmia, two features that are also frequently present in CHARGE syndrome. CHARGE syndrome is caused by mutations in the CHD7 gene. We performed analysis of CHD7 in 36 patients with KS and 20 patients with normosmic idiopathic hypogonadotropic hypogonadism (nIHH) in whom mutations in KAL1, FGFR1, PROK2 and PROKR2 genes were excluded. Three of 56 KS/nIHH patients had de novo mutations in CHD7. In retrospect, these three CHD7-positive patients showed additional features that are seen in CHARGE syndrome. CHD7 mutations can be present in KS patients who have additional features that are part of the CHARGE syndrome phenotype. We did not find mutations in patients with isolated KS. These findings imply that patients diagnosed with hypogonadotropic hypogonadism and anosmia should be screened for clinical features consistent with CHARGE syndrome. If such features are present, particularly deafness, dysmorphic ears and/or hypoplasia or aplasia of the semicircular canals, CHD7 sequencing is recommended.
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DOI：
10.1073/pnas.0707173104
发表时间：
2007-10-30
影响因子：
11.1
作者：
Pitteloud, Nelly;Zhang, Chengkang;Crowley, William F., Jr.
通讯作者：
Crowley, William F., Jr.
影响因子：
3.6
作者：
Abadie, V;Wiener-Vacher, S;Manac'h, Y
通讯作者：
Manac'h, Y
影响因子：
30.8
作者：
Dodé, C;Levilliers, J;Hardelin, JP
通讯作者：
Hardelin, JP
影响因子：
5.2
作者：
Sanlaville, Damien;Verloes, Alain
通讯作者：
Verloes, Alain
影响因子：
5.8
作者：
Sato, N;Katsumata, N;Ogata, T
通讯作者：
Ogata, T