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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Novel variants in PNPLA6 causing syndromic retinal dystrophy.

Shijing Wu¹, Zixi Sun¹, Tian Zhu¹

¹Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.

Experimental Eye Research

|November 3, 2020

Summary

This study identifies novel genetic variants in the PNPLA6 gene associated with syndromic retinal dystrophy. Severe ocular and systemic manifestations are linked to specific deleterious variants within the Patatin-like phospholipase domain.

Keywords:

Boucher-Neuhäuser syndrome Choroideremia-like Oliver-McFarlane syndrome PNPLA6 gene Syndromic retinal dystrophy

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Published on: August 20, 2019

Area of Science:

Genetics and Ophthalmology
Molecular Biology
Medical Genetics

Background:

PNPLA6-related disorders encompass a spectrum of phenotypes including Boucher-Neuhäuser syndrome and Gordon Holmes syndrome.
Syndromic retinal dystrophies often present with complex ocular and systemic features.
Understanding the genetic basis of these disorders is crucial for diagnosis and management.

Purpose of the Study:

To investigate the genotype-phenotype correlations in patients with PNPLA6-related syndromic retinal dystrophy.
To identify novel pathogenic variants in the PNPLA6 gene.
To analyze the impact of identified variants on ocular and systemic manifestations.

Main Methods:

Clinical evaluation of five syndromic retinal dystrophy patients (four Chinese, one Caucasian/Chinese).
Comprehensive genetic testing including identification of PNPLA6 variants.
Literature review of previously reported PNPLA6-related cases for genotype-phenotype correlation analysis.
RT-PCR to confirm the effect of splicing variants on gene expression.

Main Results:

Five patients presented with severe chorioretinal dystrophy, profoundly decreased vision, cerebellar ataxia, hypogonadotropic hypogonadism, and hair anomalies.
Six novel and three previously reported pathogenic variants in PNPLA6 were identified.
All patients carried a combination of one severe deleterious variant (stop-gain or splicing) and one milder missense variant.
Missense variants and severe deleterious variants, particularly those in the Patatin-like phospholipase (Pat) domain, were significantly correlated with retinal involvement.

Conclusions:

PNPLA6-associated syndromic retinal dystrophy presents with variable systemic involvement and characteristic choroideremia-like fundus changes.
Ocular manifestations can be the initial and sole presenting signs for an extended period.
The severity of retinal involvement is strongly associated with the presence of severe deleterious variants and variants located within the Pat domain of the PNPLA6 gene.