Prenatal onset GAPO syndrome with a novel ANTXR1 variant in an Indian child: Expansion of the phenotype & literature review

IF 1.6 4区 医学 Q3 GENETICS & HEREDITY
Surya Balakrishnan , Iravathy Goud , Madhavi Latha Teegala
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引用次数: 0

Abstract

GAPO syndrome is a rare genetic condition caused by bi-allelic variants in ANTXR1 gene & is an abbreviation for its core features - growth retardation, alopecia, pseudo-anodontia & optic atrophy. Certain additional features involving various other systems have been reported over the years & contribute to the expanding spectrum of this evolving phenotype. We report GAPO syndrome in a 3.75 year old Indian female child, who presented with some unique features such as sagittal craniosynostosis with scaphocephaly & bilateral choroid plexus cysts, alongside the core phenotype. We also report a novel frameshift variant in our patient & offer first evidence for the prenatal onset of some features.

一名印度儿童的产前 GAPO 综合征伴有新型 ANTXR1 变异:表型扩展与文献综述。
GAPO 综合征是一种罕见的遗传病,由 ANTXR1 基因的双等位基因变异引起,其核心特征是生长迟缓、脱发、假性无牙症和视神经萎缩。多年来,一些涉及其他不同系统的额外特征也不断被报道出来,使这一不断演变的表型的范围不断扩大。我们报告了一名 3.75 岁印度女婴的 GAPO 综合征,该患儿除具有核心表型外,还具有一些独特的特征,如矢状颅骨发育不良伴头枕畸形和双侧脉络丛囊肿。我们还报告了患者的一种新型框架移位变异,并首次提供了某些特征在产前发病的证据。
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来源期刊
CiteScore
4.10
自引率
0.00%
发文量
193
审稿时长
66 days
期刊介绍: The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.
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