Audiological phenotypes of Antlet-Bixler syndrome: a case report and literatures review
-
摘要: Antlet-Bixler综合征是一种罕见的先天性多发畸形，本文报告1例，患儿临床表现为面中部发育不良、颅缝早闭、骨骼畸形，经全外显子测序证明POR基因复合杂合突变，诊断为Antlet-Bixler综合征。患儿听力学表现为感音神经性、传导性、混合性听力损失，类型复杂多变。本文根据病史结合相关文献对其临床听力学特征及遗传学病因等进行探讨。
-
关键词:
- 儿童 /
- Antlet-Bixler综合征 /
- POR基因 /
- 听力损失
Abstract: Antlet-Bixler syndrome is a rare congenital multiple malformation. In this report, a child with clinical features of midface hypoplasia, craniosynostosis, and skeletal deformities was diagnosed with Antlet-Bixler syndrome after whole exome sequencing demonstrated compound heterozygous mutations in POR. The audiological findings of affected children with sensorineural, conductive, mixed hearing loss are complex and variable. In this paper, its clinical audiological features and genetic etiology were discussed in combination with relevant literatures.-
Key words:
- child /
- Antlet-Bixler syndrome /
- POR gene /
- hearing loss
-
-
[1] Scott RR, Miller WL. Genetic and clinical features of p450 oxidoreductase deficiency[J]. Horm Res, 2008, 69(5): 266-275.
[2] Bai Y, Li J, Wang X. Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review[J]. J Ovarian Res, 2017, 10(1): 16. doi: 10.1186/s13048-017-0312-9
[3] Fan L, Ren X, Song Y, et al. Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children[J]. Orphanet J Rare Dis, 2019, 14(1): 299. doi: 10.1186/s13023-019-1283-2
[4] Adachi M, Tachibana K, Asakura Y, et al. Compound heterozygous mutations of cytochrome P450 oxidoreductase gene(POR)in two patients with Antley-Bixler syndrome[J]. Am J Med Genet A, 2004, 128A(4): 333-339. doi: 10.1002/ajmg.a.30169
[5] Flück CE, Nicolo C, Pandey AV. Clinical, structural and functional implications of mutations and polymorphisms in human NADPH P450 oxidoreductase[J]. Fundam Clin Pharmacol, 2007, 21(4): 399-410. doi: 10.1111/j.1472-8206.2007.00520.x
[6] Miller WL, Agrawal V, Sandee D, et al. Consequences of POR mutations and polymorphisms[J]. Mol Cell Endocrinol, 2011, 336(1/2): 174-179.
[7] Saito Y, Yamamoto N, Katori N, et al. Genetic polymorphisms and haplotypes of por, encoding cytochrome p450 oxidoreductase, in a Japanese population[J]. Drug Metab Pharmacokinet, 2011, 26(1): 107-116. doi: 10.2133/dmpk.DMPK-10-SC-096
[8] Li H, Zhao A, Xie M, et al. Antley-Bixler syndrome arising from compound heterozygotes in the P450 oxidoreductase gene: a case report[J]. Transl Pediatr, 2021, 10(12): 3309-3318. doi: 10.21037/tp-21-499
[9] Lee Y, Choi JH, Oh A, et al. Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency[J]. Ann Pediatr Endocrinol Metab, 2020, 25(2): 97-103. doi: 10.6065/apem.1938152.076
[10] McCall AA, Kirsch CF, Ishiyama G, et al. Otologic findings in Antley-Bixler syndrome: a clinical and radiologic case report[J]. Int J Pediatr Otorhinolaryngol, 2007, 71(7): 1139-1143. doi: 10.1016/j.ijporl.2007.02.016
[11] Fukami M, Nishimura G, Homma K, et al. Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients[J]. J Clin Endocrinol Metab, 2009, 94(5): 1723-1731. doi: 10.1210/jc.2008-2816
-
下载:
图(1)
计量
- 文章访问数: 908
- PDF下载数: 294
- 施引文献: 0