Table 1

Clinical features of the Cohen syndrome spectrum in patients with or without VPS13B gene mutations

Clinical featuresPatients with VPS13B mutations*Patients without VPS13B mutations*p
Mean age at screening18±12 years16±7 years
Mental retardation12/12 (100%)22/22 (100%)NS
Compatible facial gestalt12/12 (100%)17/22 (77%)NS
Microcephaly11/11 (100%)10/21 (48%)0.0045
Joint hyperextensiblity9/11 (82%)7/14 (50%)NS
Slender extremities/tapering fingers12/12 (100%)19/22 (86%)NS
Truncal obesity11/12 (92%)18/22 (82%)NS
Myopia9/10 (90%)11/22 (50%)0.049
Chorioretinal dystrophy11/12 (92%)6/19 (32%)0.0023
Neutropenia11/12 (92%)1/21 (5%)<0.001
Fulfilment of Kolehmainen's criteria [2004]12/12 (100%)5/22 (23%)<0.001
  • NS, not statistically significant.

  • * N positive/N assessed patients.