Genotype-phenotypic correlation in a Chinese patient with isolated lissencephaly sequence caused by 17p13.3p13.2 chromosomal microdeletion: a 6-year follow-up study.

A 2.06 Mb de novo deletion at 17p13.3p13.2 causes progressive neurodevelopmental decline in a Chinese patient with isolated lissencephaly sequence, highlighting PAFAH1B1 haploinsufficiency.

• Why it matters: Understanding the genetic basis and progression of ILS is crucial for early diagnosis, intervention, and genetic counseling, especially in diverse populations like Chinese patients.
• What they did: The study involved a 6-year follow-up of a child with ILS, using trio-WES and CNV-seq to identify the deletion, alongside serial assessments of physical growth and neurodevelopmental function.
• The result: Findings show that PAFAH1B1 haploinsufficiency underpins core lissencephaly features, with additional effects from genes related to olfactory perception and calcium transport, informing future mechanistic and clinical strategies.