Table 2

Study family data summary

Pedigree No*Mean head circumference†No of affecteds in each sibship‡Loci that were homozygous or concordant for each pedigree§
*The families are numbered sequentially based upon their chronological ascertainment into the study.
†The mean head circumference for the affected subjects in each family is given as a standard deviation from the age and sex norm.
‡The number of affected subjects is given by sibships, for example, two sibs and a cousin would be represented as “2+1”, and only includes those assessed as affected by the authors and in whom genotyping was performed.
§The MCPH locus to which each family is most likely to be linked was derived from the genotyping results as follows: if all affected member(s) of a family had the same homozygous haplotype for a MCPH locus the family was designated linked; if the affected members had different heterozygous marker results or different homozygous haplotypes the family was regarded as not linked; and if all affected subjects had identical concordant, but heterozygous, haplotypes the family were not regarded as proven linked to the locus but noted as concordant.
1 −72+2MCPH3
2 −51+1MCPH5
3 −44None
4 −42MCPH5
5−111MCPH5
6 −62MCPH2
7 −41MCPH3
8 −71MCPH2
9 −61MCPH5
10 −42+1MCPH2
11−121MCPH2
12−113MCPH5
13 −62None
14 −42+1None
15 −62MCPH5
16 −72+1MCPH5
17 −4.52None
18 −72+2+1MCPH1
19−7.52MCPH5
20 −8.52MCPH5
21 −83MCPH5
22 −81+1MCPH5
23 −63Concordant for MCPH3
24−102MCPH1
25 −62+1MCPH2
26 −51MCPH5
27 −6.52+2+1+1MCPH2
28 −7.51+1None
29−101MCPH5
30 −91+1+2+3+1MCPH2
31 −43+1+1None
32 −52Concordant for MCPH4
33−102+1MCPH5
34 −62Concordant for MCPH3
35 −7.52MCPH2
36 −92+2None
37 −53+1+1None
38 −91+1+1MCPH5
39 −82None
40 −4.51+1None
41 −9.52MCPH5
42−101MCPH5
43 −62Concordant for MCPH3
44 −63+1MCPH5
45 −51None
46 −92MCPH5
47 −63MCPH5
48 −62MCPH5
49 −51MCPH2 and MCPH3
50 −61MCPH2
51 −41None
52 −51None
53 −41MCPH2
54 −62MCPH5
55 −92+1MCPH5
56 −91+5+4+2MCPH5