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Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients

CINBIO, Universidad de Vigo, 36310 Vigo, Spain
Grupo de Investigación en Enfermedades Raras y Medicina Pediátrica, Instituto de Investigación Sanitaria Galicia Sur (IIS Galicia Sur), SERGAS-UVIGO, 36310 Vigo, Spain
Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), ISCIII, 28029 Madrid, Spain
Departamento de Genética Clínica, Instituto de Investigación Sanitaria Hospital Universitario Fundación Jiménez Díaz, (IIS-FJD, UAM), 28040 Madrid, Spain
Unidad de Genética, Hospital Universitario y Politécnico La Fe. Biomedicina Molecular Celular y Genómica, Instituto Investigación Sanitaria La Fe, 46026 Valencia, Spain
Author to whom correspondence should be addressed.
Academic Editor: Laura Crisponi
Genes 2021, 12(2), 282;
Received: 19 January 2021 / Revised: 11 February 2021 / Accepted: 12 February 2021 / Published: 16 February 2021
(This article belongs to the Section Human Genomics and Genetic Diseases)
Alström syndrome (ALMS) is an ultrarare disease with an estimated prevalence lower than 1 in 1,000,000. It is associated with disease-causing mutations in the Alström syndrome 1 (ALMS1) gene, which codifies for a structural protein of the basal body and centrosomes. The symptomatology involves nystagmus, type 2 diabetes mellitus (T2D), obesity, dilated cardiomyopathy (DCM), neurodegenerative disorders and multiorgan fibrosis. We refined the clinical and genetic diagnosis data of 12 patients from 11 families, all of them from Spain. We also studied the allelic frequency of the different variants present in this cohort and performed a haplotype analysis for the most prevalent allele. The genetic analysis revealed 2 novel homozygous variants located in the exon 8, p.(Glu929Ter) and p.(His1808GlufsTer20) in 2 unrelated patients. These 2 novel variants were classified as pathogenic after an in silico experiment (computer analysis). On the other hand, 2 alleles were detected at a high frequency in our cohort: p.(Tyr1714Ter) (25%) and p.(Ser3872TyrfsTer19) (16.7%). The segregation analysis showed that the pathogenic variant p.(Tyr1714Ter) in 3 families is linked to a rare missense polymorphism, p.(Asn1787Asp). In conclusion, 2 novel pathological mutations have been discovered in homozygosis, as well as a probable founder effect in 3 unrelated families. View Full-Text
Keywords: ciliopathies; Alström syndrome; metabolic disease; novel mutations; founder effect ciliopathies; Alström syndrome; metabolic disease; novel mutations; founder effect
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MDPI and ACS Style

Bea-Mascato, B.; Solarat, C.; Perea-Romero, I.; Jaijo, T.; Blanco-Kelly, F.; Millán, J.M.; Ayuso, C.; Valverde, D. Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients. Genes 2021, 12, 282.

AMA Style

Bea-Mascato B, Solarat C, Perea-Romero I, Jaijo T, Blanco-Kelly F, Millán JM, Ayuso C, Valverde D. Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients. Genes. 2021; 12(2):282.

Chicago/Turabian Style

Bea-Mascato, Brais, Carlos Solarat, Irene Perea-Romero, Teresa Jaijo, Fiona Blanco-Kelly, José M. Millán, Carmen Ayuso, and Diana Valverde. 2021. "Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients" Genes 12, no. 2: 282.

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