ELECTRONIC LETTER

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

J Bond^1,*, K Flintoff^2,*, J Higgins¹, S Scott¹, C Bennet³, J Parsons⁴, J Mannon⁵, H Jafri⁶, Y Rashid⁷, M Barrow⁸, R Trembath⁸, G Woodruff⁹, E Rossa¹⁰, S Lynch¹¹, J Sheilds¹², R Newbury-Ecob¹³, A Falconer¹⁴, P Holland¹⁵, D Cockburn², G Karbani³, S Malik³, M Ahmed³, E Roberts¹, G Taylor², C G Woods^1,3

¹ Molecular Medicine Unit, St James’s University Hospital, Leeds, UK
² Regional DNA Laboratory, St James’s University Hospital, Leeds, UK
³ Department of Clinical Genetics, St James’s University Hospital, Leeds, UK
⁴ Department of Paediatric Cardiology, Leeds General Infirmary, Leeds, UK
⁵ Department of Paediatrics, Fatima Jinah Hospital, Lahore, Pakistan
⁶ Genetech Laboratory, Jail Road, Lahore, Pakistan
⁷ Department of Obstetrics and Gynaecology, Lady Wellington Hospital, Lahore, Pakistan
⁸ Department of Clinical Genetics, Leicester Royal Infirmary, Leicester, UK
⁹ Department of Ophthalmology, Leicester Royal Infirmary, Leicester, UK
¹⁰ Department of Clinical Genetics, Great Ormond Street Hospital, London, UK
¹¹ Department of Clinical Genetics, Centre For Life, Newcastle-upon-Tyne, UK
¹² Department of Paediatrics, Bristol Children’s Hospital, Bristol, UK
¹³ Department of Clinical Genetics, Bristol Children’s Hospital, Bristol, UK
¹⁴ Department of Paediatrics, Scarborough General Hospital, Scarborough, UK
¹⁵ Department of Paediatrics, Leeds General Infirmary, Leeds, UK

Correspondence to:
Correspondence to:
Dr J Bond
Molecular Medicine Unit, Clinical Sciences Building, St James’s University Hospital, Beckett Street, Leeds LS9 7TF, UK; medjbo@leeds.ac.uk

Revised version received 19 October 2004

Accepted 22 October 2004

Keywords: ALMS1; Alström syndrome; dilated cardiomyopathy

The first 150 words of the full text of this article appear below.

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 . . . [Full text of this article]

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