Alström Syndrome

Marshall, Jan D.; Beck, Sebastian; Maffei, Pietro; Naggert, Jürgen Κ.

doi:10.1038/sj.ejhg.5201933

Cited by 221 publications

(392 citation statements)

References 26 publications

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“…[9][10][11] Clinical characteristics of these syndromes and of the patient are shown in Table 1. Both syndromes show extensive clinical variability and share impaired glucose metabolism (diabetes), impaired vision and hearing, and neurological abnormalities, which were observed in our patient.…”

Section: Discussionmentioning

confidence: 99%

A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient

et al. 2013

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Insulin-dependent juvenile-onset diabetes may occur in the context of rare syndromic presentations suggesting monogenic inheritance rather than common multifactorial autoimmune type 1 diabetes. Here, we report the case of a Lebanese patient diagnosed with juvenile-onset insulin-dependent diabetes presenting ketoacidosis, early-onset retinopathy with optic atrophy, hearing loss, diabetes insipidus, epilepsy, and normal weight and stature, who later developed insulin resistance. Despite similarities with Wolfram syndrome, we excluded the WFS1 gene as responsible for this disease. Using combined linkage and candidate gene study, we selected ALMS1, responsible for Alströ m syndrome, as a candidate gene. We identified a novel splice mutation in intron 18 located 3 bp before the intron-exon junction (IVS18-3T4G), resulting in exon 19 skipping and consequent frameshift generating a truncated protein (V3958fs3964X). The clinical presentation of the patient significantly differed from typical Alströ m syndrome by the absence of truncal obesity and short stature, and by the presence of ketoacidotic insulin-dependent diabetes, optic atrophy and diabetes insipidus. Our observation broadens the clinical spectrum of Alström syndrome and suggests that ALMS1 mutations may be considered in patients who initially present with an acute onset of insulin-dependent diabetes.

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Section: Discussionmentioning

confidence: 99%

A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient

et al. 2013

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“…Therefore, only one mutation found in the context of appropriate clinical presentation, may confirm diagnosis of Alström syndrome. 8 A negative result using current methods does not exclude the diagnosis, if classic clinical features are present.…”

Section: Analytical Sensitivity (Proportion Of Positive Tests If the mentioning

confidence: 99%

“…Given the rarity of the syndrome and the progressive phenotype, depending on the age of the patient and the clinical symptoms, it can be concluded that a finding of only one mutation together with age appropriate symptoms may confirm the diagnosis of Alström syndrome; therefore the clinical sensitivity can be estimated being about 96%. 8 …”

Section: Clinical Sensitivity (Proportion Of Positive Tests If the DImentioning

confidence: 99%

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Clinical utility gene card for: Alström syndrome

Marshall

Maffei

Beck³

et al. 2011

Eur J Hum Genet

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“…A wide range of clinical variation is observed in AS individuals and their siblings. The most common clinical findings are cone-rod dystrophy which results in childhood blindness, central obesity that manifests very early, insulinresistant type 2 diabetes mellitus (T2DM), progressive sensorineural hearing loss and infantile or adolescent-onset dilated cardiomyopathy [1]. Only 800 cases of AS have been reported worldwide since 1959.…”

Section: Introductionmentioning

confidence: 99%

Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness

et al. 2015

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Alstrom's syndrome (AS) is a rare autosomal recessive ciliopathic condition affecting 1:10,00,000 children. It's a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with cone-rod retinal dystrophy causing juvenile blindness, obesity, insulin resistance, type 2 Diabetes mellitus, hypogonadism and sensorineural hearing loss. Till now only 800 patients with this disorder has been identified so far. In this report, we describe the case of a 9-year old male boy from south India. He had been initially referred for polyphagia, polyuria, polydipsia, generalized weakness from 1 weeks. On examination he was demonstrated features suggestive of AS, including blindness, obesity, type 2 diabetes, altered lipid profile, hypogonadism, acanthosis nigricans, seborrheic dermatitis, right ear discharge and episodes of respiratory tract infections. So, diagnosis of AS is critical as it can easily be overlooked because of the many features associated with metabolic syndrome starting at age 7, a relatively early age.

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Alström Syndrome

Cited by 221 publications

References 26 publications

A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient

A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient

Clinical utility gene card for: Alström syndrome

Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness

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