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As part of a clinical study of Alström syndrome (MIM 203800) we sequentially ascertained seven families. Four of the families, pedigrees A–D (table 1), were consanguineous. In total there were 16 living affected individuals, aged 3–25 years. All had cone rod dystrophy that presented in the first 3 months of life with photophobia and nystagmus. The cone rod dystrophy progressed and all were registered blind by the end of the first decade. By the middle of the first decade a characteristic appearance of sunken eyes and a prominent supra-orbital ridge had developed (fig 1A). Truncal obesity became apparent in the first few years of life and all exhibited acanthosis nigricans in their teenage years. None has yet developed symptomatic diabetes. All males of sufficient age failed to enter puberty without hormone support and thereafter developed a female fat distribution (fig 1B). Deafness developed in all cases by the end of the first decade, but varied in severity and symmetry within and between families. All affected individuals were of normal intelligence though they experienced educational difficulties because of their combined and progressive sensory deficits. In all seven families other diagnoses had been made prior to the final diagnosis of Alström syndrome, presumably because of the rarity of the condition and the sequential presentation of disease features.1,2
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In all seven families the index case had presented with symptoms …
Footnotes
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↵* These authors contributed equally to the paper.
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JB, JH, SS, ER, and CGW are funded by the Wellcome Trust.
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Conflict of interest: none declared.
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Ethical approval: the study was approved by the Ethical Committee of the Combined Leeds Health Care Trusts. Informed consent was obtained from all subjects involved in the study and when under 18 years of age, also from their parents.
Primer sequences used for sequencing ALMS1 and for confirming the exon 9 deletion are available from the corresponding author.