Related syndromes

Several related syndromes overlap with AT. Nijmegen breakage syndrome (NBS) shares t(7;14) translocations, radiosensitivity, immunodeficiency and cancer susceptibility with AT but these patients do not have ataxia, telangiectasia, nor elevated AFP; NBS patients are microcephalic and mentally retarded. AT patients are usually not mentally retarded. Berlin breakage syndrome is very similar

A Deletion 0 Point mutation ▼ Insertion

□ Founder effect

I til

O _________ ___ __ ___ _____ ___ ___ __ ___^ ___ ___ __

Figure 3 Spectrum of -120 ATM mutations based on studies of cDNA from cells of patients from many countries. Mutations seen in related (i.e. shared haplotypes) families are indicated only once (boxes) so as not to bias the distribution.

to NBS but sometimes includes syndactyly or anal stenosis. ATFrcsno combines the AT and NBS syndromes. ATFresno patients have ATM mutations. NBS and BBS families do not link to llq23.1 and, therefore, are probably caused by mutations at another (AT-related) gene.

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