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Alstrom syndrome: A novel mutation in Saudi girl with insulin-resistant diabetes.

ABSTRACT: RATIONALE:Alström syndrome is an autosomal recessive disorder characterized by hearing loss, blindness, obesity, non-insulin dependent diabetes, and others. PATIENT CONCERN:A 10 years old Saudi girl, who presented with diabetic ketoacidosis and found to have hearing loss and blindness. DIAGNOSIS:Alström syndrome. INTERVENTIONS:Multidisciplinary team approach, with echocardiography, hearing test, eye exam and genetic test for Alström syndrome. OUTCOMES:The patient has retinitis pigmentosa, bilateral hearing loss, double diabetes with weakly positive anti-insulin antibodies and DNA analysis showed novel mutation for Alström syndrome. LESSONS:the combination of obesity, diabetes, hearing loss and blindness should alert the physician to test for Alström syndrome.

SUBMITTER: Bakar AA

PROVIDER: S-EPMC5348158 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature

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Alström syndrome: A novel mutation in Saudi girl with insulin-resistant diabetes.

Bakar Ayman A AA Kamal Naglaa Mohamed NM Alsaedi Abdulaziz A Turkistani Reem R Aldosari Dima D

Medicine 20170301 10

<h4>Rationale</h4>Alström syndrome is an autosomal recessive disorder characterized by hearing loss, blindness, obesity, non-insulin dependent diabetes, and others.<h4>Patient concern</h4>A 10 years old Saudi girl, who presented with diabetic ketoacidosis and found to have hearing loss and blindness.<h4>Diagnosis</h4>Alström syndrome.<h4>Interventions</h4>Multidisciplinary team approach, with echocardiography, hearing test, eye exam and genetic test for Alström syndrome.<h4>Outcomes</h4>The pati ...[more]

PMID: 28272210

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Project description:PurposeAlström syndrome (AS) is a rare monogenic autosomal recessively inherited disorder characterized by cone rod dystrophy and multiple organ dysfunction. Mutations in the Alström syndrome 1 (ALMS1) gene have been found to be causative for AS. The purpose of this study was to identify ALMS1 mutations and to assess the clinical features of Chinese patients with AS.MethodsDetailed ocular and laboratory examinations were performed. Peripheral blood samples were collected from patients and their parents. Genomic DNA was extracted with a Qiagen kit. Exons and exon/intron junctions of ALMS1 were amplified with polymerase chain reaction (PCR) and screened for mutations with Sanger sequencing. The results were compared with the ALMS1 transcript to exclude polymorphisms and confirm pathogenic mutations.ResultsSeven patients from five unrelated non-consanguineous families were diagnosed with AS. All patients had cone rod dystrophy with impaired visual acuity, photophobia, and nystagmus. Other clinical features, including sensorineural hearing loss, truncal obesity, insulin resistance, type 2 diabetes mellitus, renal and hepatic dysfunction, hyperlipidemia, hypothyroidism, mental retardation, acanthosis nigricans, and scoliosis, were present. Sequencing revealed two novel mutations, p.N3150Kfs2X and p.V3154Xfs, in patient 1; one novel mutation, p.N3672Ifs11X, and one previously reported nonsense mutation, p.R3703X, in patient 2; novel mutations p.S2479X and p.R3611Efs7X in patient 3; one novel homozygous mutation, p.S695X, in patients 4 and 5; and two novel mutations, p.H688HfsX and p.Q3147Qfs2X, in patients 6 and 7. These mutations were not present in 100 unrelated healthy Chinese control subjects. The patients' parents were heterozygous carriers of the mutant allele.ConclusionsSeven Chinese patients with AS showed typical ophthalmic features and multiple organ dysfunction. Novel loss of function mutations in the ALMS1 gene are the underlying genetic defects.

Dataset Information

Alstrom syndrome: A novel mutation in Saudi girl with insulin-resistant diabetes.

Publications

Alström syndrome: A novel mutation in Saudi girl with insulin-resistant diabetes.

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