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[PMID]: 29292161
[Au] Autor:Maddalena A; Tornabene P; Tiberi P; Minopoli R; Manfredi A; Mutarelli M; Rossi S; Simonelli F; Naggert JK; Cacchiarelli D; Auricchio A
[Ad] Address:Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli 80078, Italy.
[Ti] Title:Triple Vectors Expand AAV Transfer Capacity in the Retina.
[So] Source:Mol Ther;26(2):524-541, 2018 Feb 07.
[Is] ISSN:1525-0024
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Retinal gene transfer with adeno-associated viral (AAV) vectors holds great promise for the treatment of inherited retinal degenerations (IRDs). One limit of AAV is its transfer capacity of about 5 kb, which can be expanded to about 9 kb, using dual AAV vectors. This strategy would still not suffice for treatment of IRDs such as Usher syndrome type 1D or Alström syndrome type I (ALMS) due to mutations in CDH23 or ALMS1, respectively. To overcome this limitation, we generated triple AAV vectors, with a maximal transfer capacity of about 14 kb. Transcriptomic analysis following triple AAV transduction showed the expected full-length products along a number of aberrant transcripts. However, only the full-length transcripts are efficiently translated in vivo. We additionally showed that approximately 4% of mouse photoreceptors are transduced by triple AAV vectors and showed correct localization of recombinant ALMS1. The low-photoreceptor transduction levels might justify the modest and transient improvement we observe in the retina of a mouse model of ALMS. However, the levels of transduction mediated by triple AAV vectors in pig retina reached 40% of those observed with single vectors, and this bodes well for further improving the efficiency of triple AAV vectors in the retina.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Data-Review

  2 / 273 MEDLINE  
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[PMID]: 29319259
[Au] Autor:Joshi AS; Mohite AR; Varthakavi PK; Rathi PM
[Ad] Address:Lecturer, Department of Endocrinology.
[Ti] Title:Alström Syndrome with Portal Hypertension.
[So] Source:J Assoc Physicians India;65(10):92-93, 2017 Oct.
[Is] ISSN:0004-5772
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:Alstrom syndrome is an autosomal recessive multisystem disorder caused by mutation in ALMS1 (2p13). Very few cases of same are reported so far of same. We report a case of Alstrom syndrome (AS) who presented with type II diabetes mellitus and portal hypertension. Unilateral anorchia with hypergonadotropic hypogonadism is another unique feature of our case.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180110
[Lr] Last revision date:180110
[St] Status:In-Data-Review

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[PMID]: 28457383
[Au] Autor:Poli L; Arroyo G; Garofalo M; Choppin de Janvry E; Intini G; Saracino A; Pretagostini R; Della Pietra F; Berloco PB
[Ad] Address:UOC Chirurgia Generale e Trapianti d'Organo, La Sapienza Università di Roma, Policlinico Umberto I, Rome, Italy. Electronic address: luca.poli@uniroma1.it.
[Ti] Title:Kidney Transplantation in Alström Syndrome: Case Report.
[So] Source:Transplant Proc;49(4):733-735, 2017 May.
[Is] ISSN:1873-2623
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The Alström syndrome is a rare genetic disorder, inherited in an autosomal recessive manner. It has recently been classified as a ciliopathic disorder. Alström syndrome is a multiorgan pathology characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dyslipidemia, short stature in adulthood, hypothyroidism, hypogonadism, dilated or restrictive cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction. End-stage renal disease can occur as early as the late teens and is the leading cause of death. More than 900 people with Alström syndrome have been reported worldwide. We present a case of a 42-year-old man affected by this syndrome with end-stage renal disease, type 2 diabetes mellitus, and loss of visual function and hearing who received a kidney transplant from a cadaveric donor. Basiliximab and steroid were used as induction therapy. Tacrolimus, mycophenolate mofetil, and steroid were used as maintenance therapy. No complications were reported during the recovery. In selected patients affected by Alström syndrome, renal transplantation can be a successful treatment for chronic kidney disease.
[Mh] MeSH terms primary: Alstrom Syndrome/complications
Kidney Failure, Chronic/etiology
Kidney Failure, Chronic/surgery
Kidney Transplantation
[Mh] MeSH terms secundary: Adult
Humans
Male
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171220
[Lr] Last revision date:171220
[Js] Journal subset:IM
[Da] Date of entry for processing:170502
[St] Status:MEDLINE

  4 / 273 MEDLINE  
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[PMID]: 29193673
[Au] Autor:Nasser F; Weisschuh N; Maffei P; Milan G; Heller C; Zrenner E; Kohl S; Kuehlewein L
[Ad] Address:Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University, Tuebingen, Germany.
[Ti] Title:Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene.
[So] Source:Acta Ophthalmol;, 2017 Nov 30.
[Is] ISSN:1755-3768
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:PURPOSE: We aim to describe ophthalmic characteristics and systemic findings in a cohort of seven patients with cone-rod retinal dystrophy (CORD) caused by pathogenic variants in the ALMS1 gene. METHODS: Seven patients with Alström syndrome (ALMS) were included in the study. A comprehensive ophthalmological examination was performed, including best-corrected visual acuity (BCVA), a semiautomated kinetic visual field exam, colour vision testing, full-field electroretinography testing according to International Society for Clinical Electrophysiology of Vision (ISCEV) standards, spectral domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF) imaging, and slit lamp and dilated fundus examination. DNA samples were analysed using Sanger sequencing or exome sequencing. RESULTS: In our cohort, the ocular phenotype presented with a wide variability in retinal function and disease severity. However, age of symptom onset (i.e. nystagmus and photophobia) was at 6-9 months in all patients. These symptoms mostly mislead to the diagnosis of congenital achromatopsia (ACHM), Leber congenital amaurosis (LCA), isolated CORD or Bardet-Biedl syndrome. The systemic manifestations in our cohort were highly variable. CONCLUSION: In summary, we can report that most of our ALMS patients primarily presented with nystagmus and severe photophobia since early childhood interestingly without night blindness in the absence of systemic symptoms. Only genetic testing analysing both nonsyndromic retinal disease (RD) genes and syndromic ciliopathy genes by comprehensive panel sequencing can result in the correct diagnosis, genetically and clinically, with important implication for the physical health of the individual.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171201
[Lr] Last revision date:171201
[St] Status:Publisher
[do] DOI:10.1111/aos.13612

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[PMID]: 29079548
[Au] Autor:Maltese PE; Iarossi G; Ziccardi L; Colombo L; Buzzonetti L; Antonino C; Tezzele S; Bertelli M
[Ad] Address:Magi's Lab, Rovereto, TN, Italy. Electronic address: paolo.maltese@assomagi.org.
[Ti] Title:A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.
[So] Source:Eur J Med Genet;, 2017 Oct 24.
[Is] ISSN:1878-0849
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Obesity phenotype can be manifested as an isolated trait or accompanied by multisystem disorders as part of a syndromic picture. In both situations, same molecular pathways may be involved to different degrees. This evidence is stronger in syndromic obesity, in which phenotypes of different syndromes may overlap. In these cases, genetic testing can unequivocally provide a final diagnosis. Here we describe a patient who met the diagnostic criteria for Alström syndrome only during adolescence. Genetic testing was requested at 25 years of age for a final confirmation of the diagnosis. The genetic diagnosis of Alström syndrome was obtained through a Next Generation Sequencing genetic test approach using a custom-designed gene panel of 47 genes associated with syndromic and non-syndromic obesity. Genetic analysis revealed a novel homozygous frameshift variant p.(Arg1550Lysfs*10) on exon 8 of the ALMS1 gene. This case shows the need for a revision of the diagnostic criteria guidelines, as a consequence of the recent advent of massive parallel sequencing technology. Indications for genetic testing reported in these currently accepted diagnostic criteria for Alström syndrome, were drafted when sequencing was expensive and time consuming. Nowadays, Next Generation Sequencing testing could be considered as first line diagnostic tool not only for Alström syndrome but, more generally, for all those atypical or not clearly distinguishable cases of syndromic obesity, thus avoiding delayed diagnosis and treatments. Early diagnosis permits a better follow-up and pre-symptomatic interventions.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171101
[Lr] Last revision date:171101
[St] Status:Publisher

  6 / 273 MEDLINE  
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[PMID]: 28724398
[Au] Autor:Yang L; Li Z; Mei M; Fan X; Zhan G; Wang H; Huang G; Wang M; Tian W; Zhou W
[Ad] Address:Division of Endocrinology, Genetics and Metabolic Diseases, Children's Hospital of Fudan University, Shanghai, China.
[Ti] Title:Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome.
[So] Source:BMC Med Genet;18(1):75, 2017 Jul 19.
[Is] ISSN:1471-2350
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mellitus; cardiomyopathy; systemic fibrosis; and pulmonary, hepatic, and renal failure. CASE PRESENTATION: A Chinese quartet family with two siblings predominantly affected by cone-rod dystrophy and short stature were recruited. The craniofacial dysmorphism and on-set age-of-cone-rod dystrophy in the proband showed a minor intrafamilial variability. Whole genome sequencing was performed to provide the full spectrum of the two siblings' genetic variations. In this study, we present the patients' clinical features and our interpretation of the whole genome sequencing data. After examining the data, we focus on two compound heterozygous mutations, (c.3902C > A, p.S1301X; c.6436C > T, p.R2146X) in ALMS1, which are shared by two siblings. CONCLUSION: We reported a novel ALMS1 mutation. Whole genome sequencing is a powerful tool to provide the full spectrum of genetic variations for heterogeneous disorders such as Alström syndrome.
[Mh] MeSH terms primary: Alstrom Syndrome/genetics
Mutation
Proteins/genetics
[Mh] MeSH terms secundary: Adolescent
Asian Continental Ancestry Group
Child
Genome, Human
Humans
Male
Sequence Analysis, DNA
Siblings
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (ALMS1 protein, human); 0 (Proteins)
[Em] Entry month:1707
[Cu] Class update date: 170817
[Lr] Last revision date:170817
[Js] Journal subset:IM
[Da] Date of entry for processing:170721
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0418-3

  7 / 273 MEDLINE  
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[PMID]: 28717663
[Au] Autor:Chen JH; Geberhiwot T; Barrett TG; Paisey R; Semple RK
[Ad] Address:Wellcome Trust-MRC Institute of Metabolic ScienceUniversity of CambridgeCambridgeUK.
[Ti] Title:Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts.
[So] Source:Mol Genet Genomic Med;5(4):390-404, 2017 Jul.
[Is] ISSN:2324-9269
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Alström syndrome (AS), featuring retinal dystrophy, neuronal deafness, cardiomyopathy, metabolic syndrome, and diffuse fibrosis, is caused by biallelic mutations in the centrosomal protein ALMS1. Genotype-phenotype correlation has been suggested without assessment of ALMS1 expression. METHODS: ALMS1 expression (real-time PCR and immunocytochemistry) and cilia formation (immunocytochemistry) were assessed in fibroblasts from deeply phenotyped volunteers diagnosed with AS recruited from a dedicated AS Service. Exome sequencing was used in two participants without convincing biallelic mutations, and BBS2 (Bardet-Biedl syndrome 2) protein expression was assessed in one patient with biallelic mutations. Hedgehog-induced GLI1 expression and PDGFA signaling was assessed using quantitative real-time PCR, immunoblotting, or immunostaining of fixed cells after stimulation. RESULTS: In 16 of the patient cell lines examined, ALMS1 protein was undetectable (14 with biallelic loss-of-function (LoF) mutations), and in two, ALMS1 staining was equivocal (one with biallelic LoF mutations). In five lines, ALMS1 expression was normal using at least one fixation method (one with biallelic LoF mutations). These differences were not accounted for by major differences in mRNA expression. Exome sequencing of two participants with normal ALMS1 expression identified biallelic LoF mutations in one. No second, known ciliopathy mutation was found in the other patient, who had one LoF ALMS1 mutation. Phenotypes were milder or atypical in participants with preserved ALMS1 immunostaining, even when two with likely alternative genetic diagnoses were excluded. All cells studied developed normal cilia, and mutant cells showed normal Hedgehog-induced upregulation of GLI1 expression, and PDGFA signaling was normal in ALMS1-deficient cells. CONCLUSION: Milder or atypical presentations of AS should prompt genetic evaluation for alternative, clinically overlapping ciliopathies. A subgroup of patients with ALMS1 defects have milder phenotypes due to residual ALMS1 expression, which may be more important than mutation site.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1707
[Cu] Class update date: 170723
[Lr] Last revision date:170723
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1002/mgg3.296

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[PMID]: 28610912
[Au] Autor:Brofferio A; Sachdev V; Hannoush H; Marshall JD; Naggert JK; Sidenko S; Noreuil A; Sirajuddin A; Bryant J; Han JC; Arai AE; Gahl WA; Gunay-Aygun M
[Ad] Address:National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health, Bethesda, MD, USA. Electronic address: alessandra.brofferio@nih.gov.
[Ti] Title:Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients.
[So] Source:Mol Genet Metab;121(4):336-343, 2017 Aug.
[Is] ISSN:1096-7206
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Alström syndrome (AS) is a rare monogenetic disorder with multi-organ involvement. Complex metabolic disturbances are common and cardiomyopathy is a well-recognized feature in infants as well as in older children and adults. Although the mechanism of cardiomyopathy is not known, previous reports suggest that individuals with infantile-onset cardiac disease recover completely. METHODS: In this single center prospective series of 38 children and adults (age range 1.7 to 37.9years; 20 females) with AS, we evaluated cardiac manifestations in detail, in the context of specific ALMS1 mutations and multisystem involvement. All patients underwent ALMS1 sequencing, biochemical testing, electrocardiogram, and echocardiographic imaging with speckle tracking to evaluate systolic strain; 21 patients underwent cardiac magnetic resonance imaging with T1 mapping. RESULTS: Approximately half of patients (17/38) had a previous diagnosis of cardiomyopathy. Global longitudinal strain, a measure of systolic contractile function, was abnormal in 94% of patients and correlated with body mass index (r=0.602, p=0.002) and C-reactive protein level (r=0.56, p=0.004), but only in children. Electrocardiographic abnormalities were seen in two-thirds of patients, and left ventricular dilatation and/or dysfunction was present in 4 adults and 4 children. CONCLUSION: AS patients with a history of resolved infantile cardiomyopathy continue to have residual impairment in cardiac function. For patients with a normal ejection fraction and no prior cardiac history, strain can be abnormal, suggesting subclinical cardiac involvement. Close cardiac screening and aggressive modification of other manifestations of AS that are risk factors for cardiac disease, including obesity, inflammation, diabetes and dyslipidemia, are essential in caring for patients with AS.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1706
[Cu] Class update date: 170815
[Lr] Last revision date:170815
[St] Status:In-Process

  9 / 273 MEDLINE  
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[PMID]: 28573831
[Au] Autor:Lindsey S; Brewer C; Stakhovskaya O; Kim HJ; Zalewski C; Bryant J; King KA; Naggert JK; Gahl WA; Marshall JD; Gunay-Aygun M
[Ad] Address:Department of Otolaryngology-Head and Neck Surgery, Georgetown University Hospital, Washington, D.C.
[Ti] Title:Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients.
[So] Source:Am J Med Genet A;173(8):2210-2218, 2017 Aug.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Alström syndrome (AS) is a rare autosomal recessive ciliopathy caused by mutations in the ALMS1 gene. Hallmark characteristics include childhood onset of severe retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, and cardiomyopathy. Here we comprehensively characterize the auditory and otologic manifestations in a prospective case series of 38 individuals, aged 1.7-37.9 years, with genetically confirmed AS. Hearing loss was preceded by retinal dystrophy in all cases, and had an average age of detection of 7.45 years (range 1.5-15). Audiometric assessments showed mean pure tone averages (0.5, 1, 2, 4 kHz) of 48.6 and 47.5 dB HL in the right and left ears, respectively. Hearing was within normal limits for only 8/74 ears (11%). For the 66 ears with hearing loss, the degree was mild (12%), moderate (54%), or severe (8%). Type of hearing loss was predominantly sensorineural (77%), while three ears had mixed loss, no ears had conductive loss, and type of hearing loss was indeterminate for the remaining 12 ears. Serial audiograms available for 33 patients showed hearing loss progression of approximately 10-15 dB/decade. Our data show that hearing loss associated with AS begins in childhood and is a predominantly symmetric, sensory hearing loss that may progress to a severe degree. Absent otoacoustic emissions, intact speech discrimination, and disproportionately normal auditory brainstem responses suggest an outer hair cell site of lesion. These findings indicate that individuals with AS would benefit from sound amplification and if necessary, cochlear implantation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1706
[Cu] Class update date: 170806
[Lr] Last revision date:170806
[St] Status:In-Process
[do] DOI:10.1002/ajmg.a.38316

  10 / 273 MEDLINE  
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[PMID]: 28502102
[Au] Autor:Álvarez-Satta M; Castro-Sánchez S; Pousada G; Valverde D
[Ad] Address:Grupo de Biomarcadores Moleculares (BB1), Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain.
[Ti] Title:Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.
[So] Source:J Cell Mol Med;21(10):2268-2275, 2017 Oct.
[Is] ISSN:1582-4934
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Bardet-Biedl syndrome (BBS) and Alström syndrome (ALMS) are rare diseases belonging to the group of ciliopathies. Although mutational screening studies of BBS/ALMS cohorts have been extensively reported, little is known about the functional effect of those changes. Thus, splicing variants are estimated to represent 15% of disease-causing mutations, and there is growing evidence that many exonic changes are really splicing variants misclassified. In this study, we aimed to analyse for the first time several variants in BBS2, ARL6/BBS3, BBS4 and ALMS1 genes predicted to produce aberrant splicing by minigene assay. We found discordance between bioinformatics analysis and experimental data when comparing wild-type and mutant constructs. Remarkably, we identified nonsense variants presumably resistant to nonsense-mediated decay, even when a premature termination codon would be introduced in the second amino acid (p.(G2*) mutation in ARL6/BBS3 gene). As a whole, we report one of the first functional studies of BBS/ALMS1 variants using minigene assay, trying to elucidate their role in disease. Functional studies of variants identified in BBS and ALMS patients are essential for their proper classification and subsequent genetic counselling and could also be the start point for new therapeutic approaches, currently based only on symptomatic treatment.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1705
[Cu] Class update date: 171004
[Lr] Last revision date:171004
[St] Status:In-Process
[do] DOI:10.1111/jcmm.13147


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