CPAP and Seckel syndrome: In a multiplex Pakistani family, the severity of phenotypes was noted in patients carrying the heterozygous PCNT variant (modifier), additionally harboring the homozygous variant of CENPJ, as compared to those cases where PCNT mutation was not segregated [19]; one loop manifested in Seckel syndrome caused by a pathogenic CENPJ variant (NM_018451.4:c.3586G > A; p.(Asp1196Asn)) which was also segregating in the second loop.