COL4A1 and COL4A2 mutations cause highly penetrant multi-system disorders (79– 84) (Tables 2 and 3).
Collectively, these data show that Col4a1 and Col4a2 mutations cause highly penetrant anterior and posterior ocular dysgenesis.
Mutations in each of the three genes caused highly significant reductions in filopodia numbers (Fig. 1B, C, I).
Despite long-range conservation of the primary sequence across evolution, the distribution of missense mutations causing RTT is highly non-random (13).
We would therefore anticipate highly penetrant mutations causing dominant forms of M-D to be absent or extremely rare in the general population.
While substituting CVs may contribute to phenotype differences among individuals such as hair color, skin color [4], [5] and disease susceptibility [6] [9], certain CVs (generally missense mutations) are known to cause highly-penetrant, Mendelian-inherited pathological conditions.
A large number of mutations cause this condition, and these vary in their clinical characteristics from none to highly severe.
Richards, R.I. & Sutherland, G.R. Dynamic mutations: A new class of mutations causing human disease.
We suggest that the identified PDE3A mutations cause the syndrome.
Mutations cause male flies to be attracted to males53.
