PMC3619948_01
Clinical photos and genotypes of patients 1 and 2, each at the age of 15 years. Note the common feature of abdominal and truncal obesity, and loss of fat mass in the gluteal region. Both have gynecomastia, kyphosis, and acanthosis nigricans in abdominal skin flexures. (a, b) patient 1, (c, d) patient 2. (e) A heterozygous two base pair deletion in exon 16, c.10568_10569delAT; p.H3523Xfs17, was identified in patient 1. (f) Heterozygous single base pair duplications in exon 8, (c.3163dupG; p.E1055GfsX4 and c.4156dupA; p.T1386NfsX15), were identified in patient 2. All mutations result in a premature termination signal in ALMS1. Black arrows demarcate the site of the frameshift mutations. ALMS, Alstrom syndrome.
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F1
This patient was first evaluated at the age of 15 years (Fig. 1c). He had severe IR, acanthosis nigricans, and truncal obesity with reduced femoral-gluteal fat (Fig. 1d).
Epileptic spike and wave discharges monitored with EEG of patient 2 at the age of 8 years. (a)(b)(c) represent three separate EEG measurements.
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F2
EEG during sleep showed very frequent bilateral spike wave complex in short series in parietal, occipital, and temporal areas (Fig. 2).