Novel mutations of the ferroportin gene (SLC40A1): analysis of 56 consecutive patients with unexplained iron overload.


:The aim of this study was to search for SLC40A1 mutations in iron overloaded patients, which tested negative for HFE mutations and other iron-related genes. After a careful differential diagnosis, we selected 56 patients with unexplained iron overload whose phenotype could suggest the ferroportin disease. Iron overload was assessed by liver biopsy or by superconducting quantum interference device. SLC40A1 exons and intron-exon boundaries were amplified by polymerase chain reaction and sequenced. We also evaluated the presence of the insulin-resistance hepatic iron overload and of non-alcoholic fatty liver disease. Iron status was assessed in 44 families. We identified two novel mutations (D157N and V72F) at the heterozygous state in two probands. Phenotype heterogeneity was observed in both families, suggesting variable penetrance and expression. Including the two affected ones, 25 of the 44 families (57%) available for the iron study had one or more relatives with increased serum iron indices. Our findings not only suggest that the presence of major alterations of serum iron parameters in probands' relatives is a main criteria to improve the power of the genetic testing for ferroportin disease but also indicate that a number of patients exists in which the etiology of iron overload remains still undefined.


Clin Genet


Clinical genetics


Pelucchi S,Mariani R,Salvioni A,Bonfadini S,Riva A,Bertola F,Trombini P,Piperno A




Has Abstract


2008-02-01 00:00:00














  • Clinical delineation of proximal and distal partial 13q trisomy.

    abstract::The most relevant phenotypic features seen in both proximal and distal partial trisomy 13 have been identified from a review of 35 cases. Clinical delineation of either proximal or distal partial trisomy 13 has been demonstrated through the use of conspicuous phenotypic differences. The findings of persistent foetal H...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Rogers JF

    更新日期:1984-03-01 00:00:00

  • Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families.

    abstract::Autosomal dominant polycystic kidney disease (ADPKD), is a heterogeneous disorder, primarily characterized by the formation of cysts in the kidneys, and the late development in life of progressive chronic kidney failure. Three genes are implicated in causing ADPKD. One on chromosome 16, PKD1, accounts for 85-90% of al...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Deltas CC,Christodoulou K,Tjakouri C,Pierides A

    更新日期:1996-07-01 00:00:00

  • Next-generation sequencing of Chinese stage IV lung cancer patients reveals an association between EGFR mutation status and survival outcome.

    abstract::Large-scale genomic characterization of non-small cell lung cancer (NSCLC) has revealed several putative oncogenic driver mutations that may constitute druggable therapeutic targets. However, there are little data to suggest that such gene alterations have clinical relevance. Over 12 consecutive months, tumor biopsy s...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Li F,Du X,Zhang H,Ju T,Chen C,Qu Q,Zhang X,Qi L,Lizée G

    更新日期:2017-03-01 00:00:00

  • Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo-exon activation in the BLM gene.

    abstract::Pathogenic biallelic variants in the BLM/RECQL3 gene cause a rare autosomal recessive disorder called Bloom syndrome (BS). This syndrome is characterized by severe growth delay, immunodeficiency, dermatological manifestations and a predisposition to a wide variety of cancers, often multiple and very early in life. Lit...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Backers L,Parton B,De Bruyne M,Tavernier SJ,Van Den Bogaert K,Lambrecht BN,Haerynck F,Claes KBM

    更新日期:2021-02-01 00:00:00

  • Molecular and clinical analyses of cystic fibrosis in the south of Spain.

    abstract::We report molecular and clinical analyses in 71 unrelated patients with cystic fibrosis (CF) from Andalusia (South of Spain). Direct mutation analysis of six mutations of the CFTR gene (delta F508, G542X, R1162X, N1303K, W1182X and 1949de184) was performed. The proportion of CF chromosomes with the above-mentioned mut...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Borrego S,Casals T,Dapena J,Fernández E,Giménez J,Cabeza JC,Sánchez J,Antiñolo G

    更新日期:1994-10-01 00:00:00

  • Prevalence of thyroid disorder in Down syndrome.

    abstract::Thyroid function has been studied in 121 patients between 13 and 48 years old with proven Down syndrome. Chemically, hypothyroidism was found in 17% and hyperthyroidism in 2.5% of the patients; 18% of patients had goiter. Thyroid antibodies were detected in 33% of subjects studied. The abnormal findings were almost eq...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Sare Z,Ruvalcaba RH,Kelley VC

    更新日期:1978-09-01 00:00:00

  • Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran.

    abstract::GNE myopathy or hereditary inclusion body myopathy (HIBM) is an ultra-rare severely disabling autosomal recessive adult onset muscle disease which affects roughly one to three individuals per million worldwide. Genetically, HIBM is caused by mutations in the glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine k...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Khademian H,Mehravar E,Urtizberea J,Sagoo S,Sandoval L,Carbajo R,Darvish B,Valles-Ayoub Y,Darvish D

    更新日期:2013-12-01 00:00:00

  • Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.

    abstract::Leigh syndrome (LS), the most common childhood mitochondrial disorder, has characteristic clinical and neuroradiologic features. Mutations in more than 75 genes have been identified in both the mitochondrial and nuclear genome, implicating a high degree of genetic heterogeneity in LS. To profile these genetic signatur...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Lee JS,Yoo T,Lee M,Lee Y,Jeon E,Kim SY,Lim BC,Kim KJ,Choi M,Chae JH

    更新日期:2020-04-01 00:00:00

  • Demented flies? Using Drosophila to model human neurodegenerative diseases.

    abstract::The success of biomedical research in the past few decades has led to dramatic improvements in human health and, as a result, increased life expectancy. An unexpected consequence, however, has been an increase in the number of age-related diseases and, in particular, neurodegenerative diseases. Despite their prevalenc...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Michno K,van de Hoef D,Wu H,Boulianne GL

    更新日期:2005-06-01 00:00:00

  • Cleft palate and complex chromosome rearrangements.

    abstract::Two of three unrelated children with de novo congenital complex chromosome rearrangements (CCR) with more than four chromosome breaks had cleft lip and palate as one of several congenital anomalies. In patient 1, unilateral complete cleft of the primary and secondary palates accompanied severe ectrodactyly, bilateral ...

    journal_title:Clinical genetics

    pub_type: 杂志文章,评审


    authors: Kousseff BG,Papenhausen P,Neu RL,Essig YP,Saraceno CA

    更新日期:1992-09-01 00:00:00

  • Low arylsulphatase A activity in a family without metachromatic leukodystrophy.

    abstract::A low arylsulphatase A activity was noted in the leukocytes and cultured skin fibroblasts of a child without any other symptoms of metachromatic leukodystrophy. Although the mother had a level of arylsulphatase commensurate with heterozygosity for the classical metachromatic leukodystrophy gene, the father had a vari...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Butterworth J,Broadhead DM,Keay AJ

    更新日期:1978-10-01 00:00:00

  • Etiological subgroups in non-syndromic isolated cleft palate. A genetic-epidemiological study of 52 Danish birth cohorts.

    abstract::Isolated cleft palate (CP) is considered to be a heterogeneous trait with an important genetic contribution to the etiology. Multifactorial-threshold models of non-syndromic CP inheritance assume a female predominance. The present study of 52 Danish birth cohorts, using several ascertainment sources, identified 2301 C...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Christensen K,Fogh-Andersen P

    更新日期:1994-11-01 00:00:00

  • Ring chromosome 22 and neurofibromatosis.

    abstract::Variable constitutional mosaicism, mos45,XY,-22/46,XY,-22,+mar/46,XY,-22,+r(22)/47,XY,-22,+r(22)+mar/ 47, XY,-22,+r(22)*2, was found in PHA-stimulated peripheral blood, in a lymphoblastoid cell line and in cultured skin fibroblasts from a mentally retarded patient with neurofibromatosis. Both the ring chromosome and t...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Tommerup N,Warburg M,Gieselmann V,Hansen BR,Koch J,Petersen GB

    更新日期:1992-10-01 00:00:00

  • Analysis of three glucose transporter genes in a Caucasian population: no associations with non-insulin-dependent diabetes and obesity.

    abstract::The significance of variation within the genes coding for three glucose transporter proteins in the aetiology of non-insulin dependent diabetes mellitus was assessed by analysing restriction fragment length polymorphisms in an English Caucasian population. Two polymorphisms at the HepG2/erythrocyte glucose transporter...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Oelbaum RS

    更新日期:1992-11-01 00:00:00

  • Detection of Fabry's disease heterozygotes by enzyme analysis in single fibroblasts after cell sorting.

    abstract::Single cells were sorted from cultured fibroblasts of five carriers of Fabry's disease using a cell sorter (FACS II). The alpha-galactosidase A activity in the single fibroblasts was assayed in nanoliter droplets with the help of quantitative microfluorimetric techniques. Two populations of fibroblasts were present in...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Jongkind JF,Verkerk A,Niermeijer MF

    更新日期:1983-04-01 00:00:00

  • Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families.

    abstract::The symptomatic treatment of dopa-responsive dystonia (DRD) emphasizes the importance of molecular analyses of the GCH-1, TH and parkin genes. However, these analyses have not been extensively studied in Chinese DRD patients. Ten DRD families from the Han ethnic group including 14 patients and 28 clinically unaffected...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Wu ZY,Lin Y,Chen WJ,Zhao GX,Xie H,Murong SX,Wang N

    更新日期:2008-12-01 00:00:00

  • Facial asymmetry and clinical manifestations in patients with novel insertion of the TCOF1 gene.

    abstract::This study explored the role of TCOF1 insertion mutations in Taiwanese patients with craniofacial anomalies. Twelve patients with single or multiple, asymmetrical congenital craniofacial anomalies were enrolled. Genomic DNA was prepared from leukocytes; the coding regions of TCOF1 were analyzed by polymerase chain rea...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Su PH,Liu YF,Yu JS,Chen JY,Chen SJ,Lai YJ

    更新日期:2012-11-01 00:00:00

  • Transcobalamins in the etiology of neural tube defects.

    abstract::In a sample of 79 pregnant women at risk offspring with neural tube defects (NTDs) and 158 controls, significantly increased median values were found for apo-transcobalamins I and II in amniotic fluid in the group at risk, thus confirming previous results. The findings may reflect a genetic disposition to NTDs associa...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Magnus P,Magnus EM,Berg K

    更新日期:1991-04-01 00:00:00

  • Two novel mutations in apolipoprotein C3 underlie atheroprotective lipid profiles in families.

    abstract::Apolipoprotein C3 (APOC3) mutations carriers typically display high plasma high-density lipoprotein cholesterol (HDL-C) and low triglycerides (TGs). We set out to investigate the prevalence and clinical consequences of APOC3 mutations in individuals with hyperalphalipoproteinemia. Two novel mutations (c.-13-2A>G and c...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Bochem AE,van Capelleveen JC,Dallinga-Thie GM,Schimmel AW,Motazacker MM,Tietjen I,Singaraja RR,Hayden MR,Kastelein JJ,Stroes ES,Hovingh GK

    更新日期:2014-05-01 00:00:00

  • Use of the RB1 cDNA as a diagnostic probe in retinoblastoma families.

    abstract::Use of an intragenic BamHI restriction fragment length polymorphism within the 5' end of the retinoblastoma gene (RB1) provided improved genetic counselling for five familial and ten non-familial retinoblastoma patients and their relatives. All other polymorphic probes within RB1 were uninformative in three families, ...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Goddard AD,Phillips RA,Greger V,Passarge E,Höpping W,Zhu XP,Gallie BL,Horsthemke B

    更新日期:1990-02-01 00:00:00

  • Vitreous involvement in familial amyloidotic neuropathy: a genealogical and genetic study.

    abstract::Extended genealogical studies stretching back to the 17th century were performed concerning the heredity patterns of vitreous involvement in Swedish patients with familial amyloidotic polyneuropathy (FAP). FAP is an autosomal dominant inherited disorder, characterized by extracellular deposition of amyloid and a clini...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Sandgren O,Drugge U,Holmgren G,Sousa A

    更新日期:1991-12-01 00:00:00

  • Next-generation DNA sequencing of a Swedish malignant hyperthermia cohort.

    abstract::Malignant hyperthermia (MH)-related mutations have been identified in the ryanodine receptor type 1 gene (RYR1) and in the dihydropyridine gene (CACNA1S), but about half of the patients do not have causative mutations in these genes. We wanted to study the contribution of other muscle genes to the RYR1 phenotypes. We ...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Broman M,Kleinschnitz I,Bach JE,Rost S,Islander G,Müller CR

    更新日期:2015-10-01 00:00:00

  • Frequency of three BRCA1 gene founder mutations in breast/ovarian cancer families from the Pomerania-Kujawy region of Poland.

    abstract::A group of 63 families from the Pomerania-Kujawy region were analyzed for three BRCA1 gene Polish founder mutations, 5382insC, 300T>G, and 4153delA, because of breast (BrCa) and/or ovarian cancer (OvCa) history. The analysis was carried out by multiplex polymerase chain reaction method. BRCA1 mutation was revealed in ...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Janiszewska H,Haus O,Lauda-Swieciak A,Pasińska M,Laskowski R,Szymański W,Górski B,Lubiński J

    更新日期:2003-12-01 00:00:00

  • RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.

    abstract::Mutations in the RMRP gene that codes for an RNA subunit of the MRP RNAse complex are the cause of cartilage-hair hypoplasia (CHH; MIM 250250). We tested the hypothesis that recessive metaphyseal dysplasia without hypotrichosis (M1M 250460), a disorder presenting with short stature and metaphyseal dysplasia similar to...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Bonafé L,Schmitt K,Eich G,Giedion A,Superti-Furga A

    更新日期:2002-02-01 00:00:00

  • Pierre Robin anomaly with an accessory metacarpal of the index fingers. The Catel-Manzke syndrome.

    abstract::A two-year-old female with the Pierre Robin anomaly and bilateral index finger malformations is described. Hypertelorism, full cheeks, posteriorly rotated ears with prominent antihelix, short neck, simian creases, bilateral fifth finger clinodactyly, and short toes with hypoplastic small nails were also present. Her m...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Dignan PS,Martin LW,Zenni EJ Jr

    更新日期:1986-02-01 00:00:00

  • Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastomas.

    abstract::This report compares the pathogenetic influences of selective deletion and triplicaton of chromosome 13 derived from a familial 12;13 insertional translocation. In the proband a heritable chromosomal basis for his bilateral retinoblastomas is established [46,XY,del (13) (pter leads to q12.5: :q22.1 leads to qter)mat],...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Riccardi VM,Hittner HM,Francke U,Pippin S,Holmquist GP,Kretzer FL,Ferrell R

    更新日期:1979-04-01 00:00:00

  • Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy.

    abstract::Myotonic dystrophy (DM) is a multisystemic disease caused by the expansion of a CTG repeat, located in the 3'-untranslated region of the DMPK gene. The number of CTG repeats broadly correlates with the overall severity of the disease. However, correlations between CTG repeat number and presence/absence or severity of ...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Marchini C,Lonigro R,Verriello L,Pellizzari L,Bergonzi P,Damante G

    更新日期:2000-01-01 00:00:00

  • Delineation of 15q13.3 microdeletions.

    abstract::The increasing use of array-comparative genomic hybridization (array-CGH) to identify copy number variations (CNVs) in patients with developmental delay (DD), mental retardation and/or dysmorphic features has allowed the recent recognition of numerous genomic imbalances, including the 15q13.3 microdeletion. Patients w...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Masurel-Paulet A,Andrieux J,Callier P,Cuisset JM,Le Caignec C,Holder M,Thauvin-Robinet C,Doray B,Flori E,Alex-Cordier MP,Beri M,Boute O,Delobel B,Dieux A,Vallee L,Jaillard S,Odent S,Isidor B,Beneteau C,Vigneron J,

    更新日期:2010-08-01 00:00:00

  • Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?

    abstract::The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are 2 rare but clinically well-described diseases caused by de novo heterozygous sequence variants in the KAT6B gene. Both phenotypes are characterized by significant global developmental delay/intellectual dis...

    journal_title:Clinical genetics

    pub_type: 杂志文章,评审


    authors: Lonardo F,Lonardo MS,Acquaviva F,Della Monica M,Scarano F,Scarano G

    更新日期:2019-02-01 00:00:00

  • Genetic counselling in hypomelanosis of Ito: case report and review.

    abstract::A 27-year-old male with hypomelanosis of Ito (HI) is reported. One of his two children had a postaxial ray defect of one leg but neither had cutaneous features of HI. Somatic mosaicism for a gene defect lethal to ectodermal derivatives offers the best explanation for HI in males, with consequent negligible recurrence ...

    journal_title:Clinical genetics

    pub_type: 杂志文章,评审


    authors: Moss C,Burn J

    更新日期:1988-08-01 00:00:00