What question did this study set out to answer?

Identify the genetic etiology in a 3-year-old boy with developmental anomalies and characterize global genotype-phenotype patterns across ATRX pathogenic variants.

October 3, 2024BMC PediatricsOpen Access

Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype–phenotype relationship

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Authors

YWYishan Wang QMQizhou Ma JCJing Chen

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Overview

Case report and literature review reveals a novel ATRX frameshift mutation in a pediatric patient, highlighting greater multi-organ severity in frameshift compared to missense variants.

Key Points

Identify the genetic etiology in a 3-year-old boy with developmental anomalies and characterize global genotype-phenotype patterns across ATRX pathogenic variants.
Performed whole-exome sequencing and family history evaluation in a 3-year-old Chinese boy presenting with intellectual disability and dysmorphic features.
Conducted a comprehensive literature search across the Medline database through August 1, 2023, extracting clinical and molecular data on ATRX pathogenic variants.
Identified a novel heterozygous frameshift variant, c.399_400dup (p.Leu134Cysfs*2), situated immediately prior to the ADD domain in the ATRX gene.
Showed that frameshift mutations correlate with higher frequencies of epilepsy, congenital heart disease, urogenital defects, acoustic defects, and optical defects compared to missense variants.
Identified a higher prevalence of urogenital defects in patients with C-terminal frameshift variants compared to N-terminal frameshift variants.

Cite This Study

Wang et al. (2024) studied this question.

synapsesocial.com/papers/6a9da040a99ff5a58a680a39 https://doi.org/10.1186/s12887-024-05088-0

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October 3, 2024BMC PediatricsOpen Access

Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype–phenotype relationship

View Full Paper

Ask AI

Bookmark

Authors

YWYishan Wang QMQizhou Ma JCJing Chen

Discussion

Member takes

Overview

Case report and literature review reveals a novel ATRX frameshift mutation in a pediatric patient, highlighting greater multi-organ severity in frameshift compared to missense variants.

Key Points

Identify the genetic etiology in a 3-year-old boy with developmental anomalies and characterize global genotype-phenotype patterns across ATRX pathogenic variants.
Performed whole-exome sequencing and family history evaluation in a 3-year-old Chinese boy presenting with intellectual disability and dysmorphic features.
Conducted a comprehensive literature search across the Medline database through August 1, 2023, extracting clinical and molecular data on ATRX pathogenic variants.
Identified a novel heterozygous frameshift variant, c.399_400dup (p.Leu134Cysfs*2), situated immediately prior to the ADD domain in the ATRX gene.
Showed that frameshift mutations correlate with higher frequencies of epilepsy, congenital heart disease, urogenital defects, acoustic defects, and optical defects compared to missense variants.
Identified a higher prevalence of urogenital defects in patients with C-terminal frameshift variants compared to N-terminal frameshift variants.

Cite This Study

Wang et al. (2024) studied this question.

synapsesocial.com/papers/6a9da040a99ff5a58a680a39 https://doi.org/10.1186/s12887-024-05088-0

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