Eye development genes and known syndromes.
Eye development genes and known syndromes.
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DOI：
10.1016/j.ymgme.2011.09.029
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发表时间：
2011-12
影响因子：
3.8
通讯作者：
Slavotinek, Anne M.
中科院分区：
文献类型：
--
作者：
Slavotinek, Anne M.
无眼症和小眼症 (A/M) 是严重的眼部缺陷，因为它们会对视力产生深远的影响。估计 33-95% 的 A/M 病例与非眼部异常相关，约 25% 的患者患有可诊断的潜在遗传综合征。综合征识别对于有针对性的分子遗传学检测、预后以及复发风险咨询非常重要。本综述提供了与 A/M 相关的几种最常见综合征的临床和分子信息：由 SOX2 突变引起的无眼症-食管-生殖器综合征、由 OTX2 突变引起的无眼症和垂体异常、由 STRA6 突变引起的 Matthew-Wood 综合征、由 BCOR 突变引起的眼心面齿综合征和 Lenz 小眼症、由 HCCS 突变引起的小眼症线性皮肤色素沉着综合征、无眼症、垂体畸形、BMP4 突变引起的多指畸形和 SMOC1 突变引起的 Waardenburg 无眼症。此外，我们还简要讨论了与其他几个重要的眼睛发育基因相关的眼部和眼外表型，包括 GDF6、VSX2、RAX、SHH、SIX6 和 PAX6。
Anophthalmia and microphthalmia (A/M) are significant eye defects because they can have profound effects on visual acuity. A/M is associated with non-ocular abnormalities in an estimated 33–95% of cases and around 25% of patients have an underlying genetic syndrome that is diagnosable. Syndrome recognition is important for targeted molecular genetic testing, prognosis and for counseling regarding recurrence risks. This review provides clinical and molecular information for several of the commonest syndromes associated with A/M: Anophthalmia-Esophageal-Genital syndrome, caused by SOX2 mutations, Anophthalmia and pituitary abnormalities caused by OTX2 mutations, Matthew-Wood syndrome caused by STRA6 mutations, Oculocardiafaciodental syndrome and Lenz microphthalmia caused by BCOR mutations, Microphthalmia Linear Skin pigmentation syndrome caused by HCCS mutations, Anophthalmia, pituitary abnormalities, polysyndactyly caused by BMP4 mutations and Waardenburg anophthalmia caused by mutations in SMOC1. In addition, we briefly discuss the ocular and extraocular phenotypes associated with several other important eye developmental genes, including GDF6, VSX2, RAX, SHH, SIX6 and PAX6.
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影响因子：
5.8
作者：
Diaczok, Daniel;Romero, Christopher;Radovick, Sally
通讯作者：
Radovick, Sally
DOI：
10.1002/ajmg.1320530205
发表时间：
1994-11-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
BIRD, LM;KROUS, HF;JONES, MC
通讯作者：
JONES, MC
影响因子：
30.8
作者：
Fantes, J;Ragge, NK;FitzPatrick, DR
通讯作者：
FitzPatrick, DR
影响因子：
5.3
作者：
Ashkenazi-Hoffnung, Liat;Lebenthal, Yael;Gat-Yablonski, Galia
通讯作者：
Gat-Yablonski, Galia
影响因子：
30.8
作者：
Belloni, E;Muenke, M;Scherer, SW
通讯作者：
Scherer, SW