2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Incidental finding of MECP2-related Disorder in a Male Infant With Chromosome 15q11.2 Microdeletion (Burnside-Butler) Syndrome

Incidental finding of MECP2-related Disorder in a Male Infant With Chromosome 15q11.2 Microdeletion (Burnside-Butler) Syndrome

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This document is a case report of a 17-month-old boy with two rare genetic disorders: MECP2-related disorder and Burnside-Butler syndrome, caused by a de novo mutation in the MECP2 gene and a maternally inherited microdeletion on chromosome 15q11.2. The MECP2-related disorder can cause a range of symptoms from severe neonatal encephalopathy to intellectual disability, while the Burnside-Butler syndrome is characterized by cognitive impairment, language and motor delay, behavioral problems, and congenital anomalies.<br /><br />The patient in this case had dyspnea, feeding difficulties, and hypertonia shortly after birth. Genetic testing revealed the MECP2 mutation and the chromosome 15q11.2 microdeletion. The patient also had other genetic variants of unknown significance. The parents observed improvements in head control and muscle tone when giving magnesium supplements and starting ketamine treatment, respectively. However, the patient currently requires oxygen supplementation due to respiratory difficulties.<br /><br />The authors emphasize the uniqueness of this case, as this combination of genetic disorders has not been previously reported in the literature. They suggest that further investigation is needed to understand the significance of the chromosome 15q11.2 microdeletion in MECP2-related disorders.<br /><br />Long-term follow-up of the patient is recommended to determine prognosis, monitor for any changes in phenotype, and provide genetic counseling for any additional concerns. The authors thank the parents for consenting to the use of the patient's information in this case report.<br /><br />The document also includes images showing the dysmorphic features of the patient and references for further reading on Rett syndrome, the Burnside-Butler syndrome, and genetic databases.

Asset Subtitle

Presenting Author - Zohra Shad, M.D; FACMG; Co-Author - Prisca Mbonu; Co-Author - Kelly Pagidas, M.D / Chair and Professor;

Meta Tag

array CGH

Bone/Joint Abnormalities

Brain/Nervous System

Cardiac/circulatory disorders

Cardiovascular System

Chromosomal Abnormalities

Clinical History

Cognitive Disorders

Congenital Anomaly

Counseling

Cytogenetics

Dysmorphology

Education

Eye disorders

Gastrointestinal System

Genetic Testing

Identification of Disease Genes

Malformation

Maternal Genetic Disease

Microarray

Molecular Cytogenetics

Musculoskeletal system

NextGen Sequencing

Phenotype

Psychosocial Counseling Issues

Risk Assessment

Sequencing

Therapy

X-Inactivation/X-Linked Disease

Co-Author Prisca Mbonu

Co-Author Kelly Pagidas, M.D / Chair and Professor

Presenting Author Zohra Shad, M.D

Keywords

genetic disorders

MECP2-related disorder

Burnside-Butler syndrome

MECP2 gene

chromosome 15q11.2 microdeletion

neonatal encephalopathy

intellectual disability

cognitive impairment

language delay

motor delay