直系兄妹PNPLA6基因突变致Boucher-Neuhäuser综合征2例并文献复习

doi:10.6040/j.issn.1673-3770.0.2022.153

Abstract

Abstract: Objective To explore and analyze the clinical features and diagnostic method of patients with Boucher-Neuhäuser syndrome caused by PNPLA6 gene mutation, and to reveal and make clear the importance of genetic testing method in the diagnosis of the genetic disease. Methods Two cases of Boucher-Neuhauser syndrome caused by PNPLA6 gene mutation were retrospectively analyzed. The structure and function of PNPLA6 gene as well as the clinical characteristics of other diseases caused by the mutation were analyzed and discussed. Results The proband and her brother were short stature since childhood. The fundus oculi was gray and dark with atrophied retina. There were some osteocytic pigmentation can be seen in the fundus oculi and the blood vessels' shape was normal. There were some exudations can be detected around the macula. Whole-exome sequencing results revealed a pair of compound heterozygous mutations in the PNPLA6 gene on the proband's chromosome 19. The first mutation was chr19:7621349, c.2990C>T(p.Ser997Leu,Exon 28). The second mutation was chr19:7623819, c.3367G>A(p.Gly1123Arg,Exon 31). The elder brother at these locus were also heterozygous mutation. Their parents were all carried disease-causing genes at these locus. Conclusion The two children were diagnosed with Boucher-Neuhäuser syndrome based on their medical history, clinical nanifestations and genetic testing results.

Key words: Boucher-Neuhä, user syndrome, PNPLA6 gene, Genetic mutation, Siblings, Case report

CLC Number:

R766.7

WEI Hui, ZHANG Mingxi, SUN Yue, XIE Ruxin, CHENG Qiong, LI Linna, XIANG Qianqian, WU Lan, CHEN Zhongshan. Boucher-Neuhäuser syndrome: a case of two siblings with two PNPLA6 mutations and literature review[J].Journal of Otolaryngology and Ophthalmology of Shandong University, 2023, 37(3): 88-92.

References

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