Further delineation of the phenotype and genotype in a newly identified PAN2-related disorder
Two siblings with a new genetic variant expand understanding of an ultra-rare developmental disorder to include previously unrecognized features.
Two siblings with a novel homozygous PAN2 stop-gain variant expand the phenotype of PAN2-related neurodevelopmental disorder to include esophageal atresia and developmental dysplasia of the hip. This case series from Turkey adds to the 7 previously reported patients in 5 families, incrementally expanding the clinical spectrum of this newly described ultra-rare condition.
What the study was
- Study design
- Case series (2 siblings)
- Population
- 2 siblings with PAN2 loss-of-function variant + neurodevelopmental delay/congenital anomalies (Turkey)
- Sample size
- 2
- Category
- Genomics/Precision Medicine
- Maturity
- Exploratory
- Journal
- Journal of Human Genetics
Why it surfaced
Case series n=2, ultra-rare disease, incremental phenotypic expansion. Score capped at 4. J Human Genetics.
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