2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Genotype-Phenotype Correlations in a Female With a Chromosome Xp11.23 Deletion including <em>PORCN </em>and <em>EBP</em>

Pdf Summary

The document describes a case study of a female patient with a chromosomal deletion involving the PORCN and EBP genes. The patient initially presented with skin abnormalities and limb malformations, including toe syndactyly, and was found to have a 300.2 kb deletion on chromosome Xp11.23. This deletion included genes associated with focal dermal hypoplasia and chondrodysplasia punctata type 2.<br /><br />Over time, the patient's phenotype became more characteristic of focal dermal hypoplasia, or Goltz syndrome. The patient showed dermatological findings such as atrophic/hypoplastic areas, cutaneous nodules, and pigmentary changes. Digit anomalies, sparse hair, and eye abnormalities were also observed.<br /><br />It was confirmed that the patient's presentation was consistent with PORCN-related focal dermal hypoplasia, and the microdeletion on Xp11.23 put her at risk for developing two X-linked dominant conditions - focal dermal hypoplasia and chondrodysplasia punctata type 2. However, follow-up evaluations suggested that chondrodysplasia punctata type 2 was not a feature of this contiguous gene microdeletion.<br /><br />The report emphasizes the challenges in phenotype prediction for female patients with chromosomal deletions on the X chromosome, particularly in infancy when the presentation is evolving. Understanding the genotype-phenotype correlations is crucial for accurate diagnosis and appropriate genetic counseling.<br /><br />The authors express their gratitude to Sema4 for performing the chromosomal microarray analysis and acknowledge the patient and her family for their participation in the study. The document concludes with references and acknowledgments.

Asset Subtitle

Co-Author - Sara M. Berger, MS, CGC; Presenting Author - Lakshmi Mehta, MD, FACMG; Co-Author - Stuart A. Scott, PhD, FACMG;

Meta Tag

Counseling

Genotype-Phenotype Correlations

Microarray

Co-Author Sara M. Berger, MS, CGC

Co-Author Stuart A. Scott, PhD, FACMG

Presenting Author Lakshmi Mehta, MD, FACMG

Keywords

chromosomal deletion

PORCN gene

EBP gene

skin abnormalities

limb malformations

focal dermal hypoplasia

chondrodysplasia punctata type 2

Goltz syndrome

phenotype prediction

genetic counseling