false
zh-CN,zh-TW,en,fr,de,ja,ko,pt,es,th,vi
Catalog
2023 ACMG Annual Clinical Genetics Meeting Digital ...
MCF2
Missense Variant in a Patient with a ...
MCF2
Missense Variant in a Patient with an Aarskog-Scott Syndrome-like Phenotype
Back to course
Pdf Summary
Aarskog-Scott Syndrome (AAS) is a rare genetic condition characterized by dysmorphic features and neurocognitive disabilities. It is linked to variants in the FGD1 gene. However, only about 20% of patients with AAS have variants in this gene, suggesting other unidentified genes may be involved. This study reports a patient with a phenotype resembling AAS and a variant in the MCF2 gene. <br /><br />The patient is a 23-year-old male with a history of morphological abnormalities and developmental delay. He had surgically corrected undescended testes, periumbilical hernia, and cleft soft palate at birth. He experienced delayed developmental milestones and was diagnosed with Autism Spectrum Disorder and hypothyroidism. He also had recurrent otitis media, cholesteatoma, bilateral conductive hearing loss, and thyroid cancer.<br /><br />The patient's craniofacial dysmorphology includes microcephaly, ptosis, thin upper lip, and flattened occiput. Skeletal abnormalities include kyphoscoliosis, hip dysplasia, pes cavus, leg length discrepancy, and a barrel chest. Genome sequencing identified a rare variant in the MCF2 gene that is predicted to be deleterious. This gene is also involved in the regulation of CDC42, similar to the FGD1 gene.<br /><br />Imaging showed features consistent with AAS, including maxillary hypoplasia, kyphoscoliosis, brachydactyly of the toes, and a barrel chest. The study suggests that the MCF2 gene, or other genes interacting with CDC42, may contribute to the pathogenesis of AAS in patients who do not have variants in the FGD1 gene.<br /><br />Overall, this study presents a case of a patient with a phenotype resembling AAS and a variant in the MCF2 gene. The findings suggest that MCF2, along with FGD1, may play a role in the development of AAS. Further research is needed to understand the molecular mechanisms and genetic basis of AAS.
Asset Subtitle
Presenting Author - Daniel Benavides, BS; Co-Author - Donna Novacic, MD; Co-Author - Maria Acosta, MD;
Meta Tag
Bone/Joint Abnormalities
Clinical History
Congenital Anomaly
Dysmorphology
Identification of Disease Genes
Intellectual disability
Phenotype
Variant Detection
Co-Author
Donna Novacic, MD
Co-Author
Maria Acosta, MD
Presenting Author
Daniel Benavides, BS
Keywords
Aarskog-Scott Syndrome
AAS
rare genetic condition
dysmorphic features
neurocognitive disabilities
FGD1 gene
MCF2 gene
phenotype resembling AAS
Molecular mechanisms
genetic basis
© 2024 American College of Medical Genetics and Genomics. All rights reserved.
×