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. 1999 Nov 19;65(6):1520–1529. doi: 10.1086/302690

Figure 1.

Figure 1

Sporadic and familial mutations in MECP2. A, Sequence tracings of six mutations, including the normal variant 1189G→A. B, R168X mutation, identified by a mutation-induced cleavage at a HphI site. The mother and two affected daughters are heterozygotes. C, 806delG frameshift mutation, identified by loss of an NlaIV site. Two females with RTT, the obligate carrier, and the affected male are positive for the diagnostic 365-bp fragment. There is no evidence for somatic mosaicism in I-3, who transmitted the mutation to her two daughters.