Table 3 Genomic disorders spanning NDD HNRNPs
From: Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Genomic disorder | HNRNP | Gene previously considered candidate for CNVs? | Shared phenotypes |
|---|---|---|---|
5q35 deletions | HNRNPH1 | No | DD/ID, characteristic facial features, overgrowth, microcephaly |
1q43q44 deletions | HNRNPU | Yes | DD/ID, seizures, structural brain abnormalities, speech delay |
9q21.32 deletions | HNRNPK | Yes | DD/ID, motor delay, speech delay, structural brain abnormalities, hypotonia, skeletal abnormalities, hand/feet abnormalities, cardiac abnormalities, genitourinary issues, dysmorphic features |
6q proximal deletions | SYNCRIP | Yes | DD/ID, ASD, structural brain abnormalities, behavioral issues |
4q21 microdeletion syndrome | HNRNPD | No | DD/ID, emotional/behavioral issues, speech delay |
1p36 monosomy | HNRNPR | No | DD/ID, skeletal abnormalities, genitourinary issues, seizures, structural brain abnormalities |