Darvish et al. (2010) reported 2 affected individuals from a consanguineous Iranian family with autosomal recessive primary microcephaly. In addition to severe mental retardation and microcephaly (-4 to -6 SD), the patients had additional features, including small ears, ... Darvish et al. (2010) reported 2 affected individuals from a consanguineous Iranian family with autosomal recessive primary microcephaly. In addition to severe mental retardation and microcephaly (-4 to -6 SD), the patients had additional features, including small ears, hypertelorism, strabismus, notched nasal tip, seizures, joint stiffness, and wheelchair requirement. Sajid Hussain et al. (2013) reported 10 patients from 3 consanguineous Pakistani families with primary microcephaly (-8 to -17 SD) between ages 7 and 30 years. Most of the patients were unable to speak or write.
In affected members of 3 families with MCPH6, of which 1 was the Brazilian family previously described by Leal et al. (2003) and 2 were Pakistani, Bond et al. (2005) identified a homozygous mutation in the CENPJ gene ... In affected members of 3 families with MCPH6, of which 1 was the Brazilian family previously described by Leal et al. (2003) and 2 were Pakistani, Bond et al. (2005) identified a homozygous mutation in the CENPJ gene (609279.0001-609279.0002, respectively). Each mutation was absent from 380 northern Pakistani control chromosomes, showed the expected disease segregation in families, and was not present in chimpanzee, gorilla, orangutan, gibbon, mouse, or rat. In affected members of a Pakistani family with MCPH6, Gul et al. (2006) identified homozygosity for a 4-bp deletion in the CENPJ gene (609279.0003). In 2 affected members of a consanguineous Iranian family with primary microcephaly, Darvish et al. (2010) identified a homozygous mutation in the CENPJ gene (T821M; 609279.0005). In 10 patients from 3 consanguineous Pakistani families with MCPH6, Sajid Hussain et al. (2013) identified a homozygous truncating mutation in the CENPJ gene (609279.0001). The mutations, which were found by linkage analysis followed by Sanger sequencing of the candidate gene, segregated with the disorder in the families. The families were ascertained from a larger cohort of 57 consanguineous Pakistani families with autosomal recessive microcephaly who underwent linkage analysis to known MCPH loci.