A recognizable phenotype related to 19p13.12 microdeletion

Area of Science:

• Human Genetics
• Molecular Biology
• Developmental Biology

Background:

• Submicroscopic deletions are rare genetic alterations.
• Chromosome 19p13.11-p13.12 deletions are infrequently reported.
• Understanding these deletions is crucial for diagnosing neurodevelopmental disorders.

Observation:

• A male patient presented with neurodevelopmental delay and facial dysmorphisms.
• The patient had a de novo 1.4 Mb deletion in chromosome 19p13.11p13.12.
• Seven previously reported cases had deletions overlapping this region.

Findings:

• Previous studies proposed critical regions for specific phenotypes.
• This study suggests a refined shortest region of overlap (SRO) of approximately 53 kb.
• The SRO encompasses parts of the BRD4, AKAP8L, and AKAP8 genes.

Implications:

• A consistent phenotype associated with 19p13.11p13.12 deletions is recognized.
• The identified phenotype includes microcephaly, ear abnormalities, facial dysmorphisms, and developmental delay.
• Refining the critical region aids in genotype-phenotype correlation and genetic counseling.