Identification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher–Neuhäuser Syndrome

Identification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher–Neuhäuser Syndrome

Background: Boucher–Neuhäuser syndrome (BNS, MIM 215470) is a rare autosomal recessive syndrome caused by mutations in the PNPLA6 gene. Few BNS cases have been reported for functional validation at the RNA level. Herein, we report on the family of a 17-year-old girl with clinical characteristics of...

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Bibliographic Details
Main Authors: Junyu He, Xin Liu, Liyi Liu, Shaohao Zeng, Shuanghong Shan, Zhihong Liao
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-02-01
Series:Frontiers in Genetics
Subjects:
Boucher–
Neuhäuser syndrome
PNPLA6 gene
hypogonadotropic hypogonadism
chorioretinal dystrophy
sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.810537/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.810537/full

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