UNASSIGNED: Autosomal recessive primary @entity4242 is a @entity245 characterized by congenitally reduced head circumference by at least two standard deviations (SD) below the mean for age and gender. It is associated with nonprogressive @entity1032 of variable degree, minimal @entity51 with no evidence of @entity75 . So far, 12 genetic loci (MCPH1-12) and corresponding genes have been identified. Most of these encode centrosomal proteins. @entity68856 is one the most recently unravelled genes responsible for MCPH with mutations reported in three consanguineous families of Moroccan origin, all of whom harboured the same @entity68856 homozygous mutation ( @entity68857 ; @entity68858 ). Here, we report the identification, by whole exome sequencing, of the same missense mutation in a consanguineous Algerian family. All @entity1 exhibited a similar clinical phenotype, including @entity4242 with head circumferences ranging from -3 to -4 standard deviations (SD) after age 5  years, moderate to severe @entity73 , @entity851 (adult height -3 SD), @entity154 included a sloping @entity542 , synophris and a low columella. @entity44999 and a large cyst of the posterior fossa were observed in one @entity1 . Close microsatellite markers showed identical alleles in the Algerian the previously and Moroccan @entity1 . This study confirms the involvement of @entity68856 in autosomal recessive @entity4242 and supports the hypothesis of a founder effect of the @entity68857 mutation. In addition, this report refines the phenotype of this newly recognized form of primary @entity4242 .

Refining the phenotype associated with XXXX mutation.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity154 :: ('MESH:D000013', 'Disease') :: ['dysmorphic features'] @entity1032 :: ('MESH:D008607', 'Disease') :: ['mental retardation'] @entity851 :: ('MESH:D006130', 'Disease') :: ['short stature'] @entity68857 :: ('c|SUB|G|6125|A', 'DNAMutation') :: ['c.6125G>A'] @entity68858 :: ('p|SUB|M|2041|I', 'ProteinMutation') :: ['p.Met2041Ile'] @entity75 :: ('MESH:D001927', 'Disease') :: ['architectural anomalies of the brain'] @entity68856 :: ('57082', 'Gene') :: ['CASC5'] @entity73 :: ('MESH:D003072', 'Disease') :: ['cognitive impairment'] @entity542 :: ('MESH:D006259', 'Disease') :: ['forehead, thick eyebrows'] @entity245 :: ('MESH:D002658', 'Disease') :: ['neurodevelopmental disorder'] @entity51 :: ('MESH:D009461', 'Disease') :: ['neurological deficit'] @entity44999 :: ('MESH:C580212', 'Disease') :: ['Severe vermis hypoplasia'] @entity4242 :: ('MESH:D008831', 'Disease') :: ['microcephaly', 'congenital microcephaly']
@entity68856 :: (57082,Gene) :: ['CASC5']
