NF1基因c.61-1G＞T杂合变异致以阴蒂肥大就诊的1型神经纤维瘤病1例

doi:10.35541/cjd.20240426

Chinese Journal of Dermatology ›› 2026, e20240426.doi: 10.35541/cjd.20240426

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A case of neurofibromatosis type 1 caused by a heterozygous mutation c.61-1G>T in the NF1 gene presenting with clitoromegaly

Guo Minhui¹, Wang Pin², Zhu Xianjun², Yang Yan^1,2, Bao Mingjing², Yang Jiyun³, Wang Jingjing¹

¹School of Medicine, University of Electronic Science and Technology of China, Chengdu 610054, China; ²Department of Endocrinology, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital（Affiliated Hospital of University of Electronic Science and Technology of China）, Chengdu 610072, China; ³Medical Genetics Center, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, （Affiliated Hospital of University of Electronic Science and Technology of China）, Chengdu 610072, China

Received:2024-08-12 Revised:2026-01-14 Online:2026-03-11 Published:2026-03-24
Contact: Yang Yan E-mail:1183791602@qq.com
Supported by:
Sichuan Provincial Science and Technology Program Fund（2022JDZH0029）

Abstract

Guo Minhui, Wang Pin, Zhu Xianjun, Yang Yan, Bao Mingjing, Yang Jiyun, Wang Jingjing. A case of neurofibromatosis type 1 caused by a heterozygous mutation c.61-1G>T in the NF1 gene presenting with clitoromegaly [J]. Chinese Journal of Dermatology,2026,e20240426. doi:10.35541/cjd.20240426

［1］	Legius E, Messiaen L, Wolkenstein P, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation［J］. Genet Med, 2021,23（8）:1506⁃1513. DOI: 10.1038/s41436⁃021⁃01170⁃5.
［2］	Pascual⁃Castroviejo I, Lopez⁃Pereira P, Savasta S, et al. Neurofibromatosis type 1 with external genitalia involvement presentation of 4 patients［J］. J Pediatr Surg, 2008,43（11）:1998⁃2003. DOI: 10.1016/j.jpedsurg.2008.01.074.
［3］	Haddad HM, Jones HW. Clitoral enlargement simulating pseudohermaphroditism［J］. AMA J Dis Child, 1960,99:282⁃287. DOI: 10.1001/archpedi.1960.02070030284005.
［4］	Bausch B, Borozdin W, Mautner VF, et al. Germline NF1 mutational spectra and loss⁃of⁃heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1［J］. J Clin Endocrinol Metab, 2007,92（7）:2784⁃2792. DOI: 10.1210/jc.2006⁃2833.
［5］	Thomas L, Spurlock G, Eudall C, et al. Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas［J］. Eur J Hum Genet, 2012, 20（4）:411⁃419. DOI: 10.1038/ejhg.2011.207.

A case of neurofibromatosis type 1 caused by a heterozygous mutation c.61-1G>T in the NF1 gene presenting with clitoromegaly

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