GAPO syndrome: a comprehensive examination and review of 105 clinical cases.

IF 3.7 2区 医学 Q2 GENETICS & HEREDITY
Clarissa Modafferi, Pino D'Ambrosio, Silvia Andaloro, Giulia Lauretti, Fulvia Antignani, Maurizio Pompili, Felice Giuliante, Marco Biolato, Benedetta Niccolini, Arcangelo Fargnoli, Francesco Bogliardi, Paola Concolino, Giuseppe Zampino, Angelo Minucci, Maurizio Genuardi, Elisabetta Tabolacci, Pietro Chiurazzi
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引用次数: 0

Abstract

Growth retardation, alopecia, pseudoanodontia and optic atrophy (GAPO) syndrome is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the ANTXR1 gene. While significant progress has been made in understanding its molecular basis, no systematic description of the clinical phenotype is available.We conducted a comprehensive review of 105 cases reported in the available literature since the first description of GAPO syndrome in 1947. We summarise here the current understanding of the clinical phenotype and the genetic basis of the condition.Our findings point out the multisystemic nature of GAPO syndrome, primarily featuring skeletal, dermatological and ophthalmological manifestations. The condition is caused by the biallelic loss-of-function of ANTXR1 Histological findings throughout the reported cases underscore the critical role of excessive extracellular matrix deposition in the pathogenesis of GAPO syndrome. The evidence gathered suggests ANTXR1 as an important regulator of extracellular matrix homeostasis.This study highlights the clinical and molecular spectrum of GAPO syndrome. Early recognition, multidisciplinary care and genetic counselling are essential for improving patient outcomes. Future studies should focus on targeted therapies addressing extracellular matrix dysregulation.

GAPO综合征:105例临床病例的综合检查与回顾。
GAPO综合征是一种罕见的常染色体隐性遗传病,由ANTXR1基因的双等位致病变异引起。虽然在了解其分子基础方面取得了重大进展,但没有系统的临床表型描述。我们对自1947年首次报道GAPO综合征以来已有文献报道的105例病例进行了全面回顾。我们在这里总结了目前对临床表型和遗传基础的理解。我们的研究结果指出了GAPO综合征的多系统性质,主要表现为骨骼、皮肤和眼科的表现。这种情况是由ANTXR1的双等位基因功能丧失引起的,所有报告病例的组织学发现都强调了过度的细胞外基质沉积在GAPO综合征发病机制中的关键作用。所收集的证据表明ANTXR1是细胞外基质稳态的重要调节因子。本研究强调了GAPO综合征的临床和分子谱。早期识别、多学科护理和遗传咨询对改善患者预后至关重要。未来的研究应侧重于针对细胞外基质失调的靶向治疗。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Journal of Medical Genetics
Journal of Medical Genetics 医学-遗传学
CiteScore
7.60
自引率
2.50%
发文量
92
审稿时长
4-8 weeks
期刊介绍: Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications worldwide.
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