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  • 1. Aminoff, Anna
    et al.
    Gunnar, Erika
    Barbaro, Michela
    Mannila, Maria Nastase
    Duponchel, Christiane
    Tosi, Mario
    Robinson, Kristina Lagerstedt
    Hernell, Olle
    Umeå universitet, Medicinska fakulteten, Institutionen för klinisk vetenskap, Pediatrik.
    Ehrenborg, Ewa
    Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia2012Inngår i: Clinical Genetics, ISSN 0009-9163, E-ISSN 1399-0004, Vol. 82, nr 2, s. 197-200Artikkel i tidsskrift (Fagfellevurdert)
  • 2. Beckman, G
    et al.
    Beckman, L
    Bjelle, A
    Dahlqvist, Solbritt Rantapää
    Alpha-1-antitrypsin types and rheumatiod-arthritis1984Inngår i: Clinical Genetics, ISSN 0009-9163, E-ISSN 1399-0004, Vol. 25, s. 496-499Artikkel i tidsskrift (Fagfellevurdert)
  • 3.
    Cederquist, Kristina
    et al.
    Umeå universitet, Medicinsk fakultet, Medicinsk biovetenskap, Medicinsk och klinisk genetik.
    Emanuelsson, Monica
    Umeå universitet, Medicinsk fakultet, Strålningsvetenskaper, Onkologi.
    Wiklund, Fredrik
    Umeå universitet, Medicinsk fakultet, Strålningsvetenskaper, Onkologi.
    Golovleva, Irina
    Umeå universitet, Medicinsk fakultet, Medicinsk biovetenskap, Medicinsk och klinisk genetik.
    Palmqvist, Richard
    Umeå universitet, Medicinsk fakultet, Medicinsk biovetenskap, Patologi.
    Grönberg, Henrik
    Umeå universitet, Medicinsk fakultet, Strålningsvetenskaper, Onkologi.
    Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome.2005Inngår i: Clinical Genetics, ISSN 0009-9163, E-ISSN 1399-0004, Vol. 68, nr 6, s. 533-541Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Lynch syndrome, or hereditary non-polyposis colorectal cancer (HNPCC), is a cancer susceptibility syndrome caused by germline mutations in mismatch-repair genes, predominantly MLH1, MSH2 and MSH6. A majority of the mutations reported are truncating, but for MSH6, missense mutations constitute over one third. Few have been proven pathogenic in functional studies or shown to segregate in families. In this study, we show segregation of the putative pathogenic MSH6 missense mutation c.1346T>C p.Leu449Pro with microsatellite instability-high Lynch syndrome-related tumours lacking MSH6 expression in a large 17th century pedigree. Another large family with the MSH6 nonsense c.2931C>G, p.Tyr977X mutation is similar in tumour spectra, age of onset and cumulative risk. These MSH6 families, despite their late age of onset, have a high lifetime risk of all Lynch syndrome-related cancers, significantly higher in women (89% by age 80) than in men (69%). The gender differences are in part explained by high endometrial (70%) and ovarian (33%) cancer risks added upon the high colorectal cancer risk (60%). The several occurrences of breast cancer are not due to the MSH6 mutations. These findings are of great importance for counselling, management and surveillance of families with MSH6 mutations.

  • 4. Goonewardena, P
    et al.
    Gustavson, K H
    Holmgren, G
    Tolun, A
    Chotai, Jayanti
    Umeå universitet, Medicinska fakulteten, Institutionen för klinisk vetenskap, Psykiatri.
    Johnsen, E
    Pettersson, U
    Analysis of fragile X-mental retardation families using flanking polymorphic DNA probes.1986Inngår i: Clinical Genetics, ISSN 0009-9163, E-ISSN 1399-0004, Vol. 30, nr 4, s. 249-54Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Fragile-X mental retardation (FRAX-MR) is one of the more common X-linked disorders affecting 1 in 1,500 newborn males. This disease is characterized by the expression of fragile site in the region q27.3 of the X-chromosome of affected boys when their lymphocytes are cultured in folate deficient medium. In most patients there is macroorchidism postpubertally. The clinical diagnosis of carrier females based on the expression of fragile site in Xq27.3 is usually difficult and sometimes impossible. About half of the carrier females escape diagnosis by this method. Furthermore, prenatal diagnosis is not always feasible. Using Restriction Fragment Length Polymorphism (RFLP) and cloned DNA segments from the region Xq27-Xqter as probes, we have investigated Swedish families with FRAX-MR in three generations. Interesting observations, previously unreported to our knowledge, have been made in some patients and carrier mothers, using one of the probes which is localized to the distal end of Xq. The significance of these findings and the linkage of the disease locus to the different probes used in this study is presented.

  • 5. Hu, F Z
    et al.
    Nyström, Åke
    Umeå universitet, Medicinska fakulteten, Institutionen för kirurgisk och perioperativ vetenskap, Handkirurgi. Department of Plastic Surgery and Department of Orthopedic Surgery, University of Nebraska, Omaha, NE, USA.
    Ahmed, A
    Palmquist, M
    Dopico, R
    Mossberg, I
    Umeå universitet, Medicinska fakulteten, Institutionen för kirurgisk och perioperativ vetenskap, Handkirurgi.
    Gladitz, J
    Rayner, M
    Post, J C
    Ehrlich, G D
    Preston, R A
    Mapping of an autosomal dominant gene for Dupuytren's contracture to chromosome 16q in a Swedish family2005Inngår i: Clinical Genetics, ISSN 0009-9163, E-ISSN 1399-0004, Vol. 68, nr 5, s. 424-429Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Dupuytren's contracture (DC) (OMIM 126900) is the most common connective tissue disease of mankind and has both heritable and sporadic forms. The inherited form is most frequently observed among the xanthochroi peoples of Northern Europe where its most common manifestations are thickening of the palmar fascia and contracture of the fingers. We ascertained a five-generation Swedish family in which DC is inherited in an autosomal dominant manner with high, but incomplete, penetrance by the end of the fifth decade. Blood was collected from all affected and informative unaffected family members for the performance of a genome-wide scan at a resolution of approximately 8 cM for all autosomes. Linkage was established to a single 6 cM region between markers D16S419 and D16S3032 on chromosome 16. A maximal two-point logarithm of odds (LOD) score of 3.18 was achieved at microsatellite marker D16S415 with four other markers in the region producing LODs of > 1.5.

  • 6. Kvarnung, Malin
    et al.
    Taylan, Fulya
    Nilsson, Daniel
    Anderlid, Britt-Marie
    Malmgren, Helena
    Lagerstedt-Robinson, Kristina
    Holmberg, Eva
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap, Medicinsk och klinisk genetik.
    Burstedt, Magnus
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap, Medicinsk och klinisk genetik.
    Nordenskjöld, Magnus
    Nordgren, Ann
    Lundberg, Elisabeth S.
    Genomic screening in rare disorders: new mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability2018Inngår i: Clinical Genetics, ISSN 0009-9163, E-ISSN 1399-0004, Vol. 94, nr 6, s. 528-537Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    We have investigated 20 consanguineous families with multiple children affected by rare disorders. Detailed clinical examinations, exome sequencing of affected as well as unaffected family members and further validation of likely pathogenic variants were performed. In 16/20 families, we identified pathogenic variants in autosomal recessive disease genes (ALMS1, PIGT, FLVCR2, TFG, CYP7B1, ALG14, EXOSC3, MEGF10, ASAH1, WDR62, ASPM, PNPO, ERCC5, KIAA1109, RIPK4, MAN1B1). A number of these genes have only rarely been reported previously and our findings thus confirm them as disease genes, further delineate the associated phenotypes and expand the mutation spectrum with reports of novel variants. We highlight the findings in two affected siblings with splice altering variants in ALG14 and propose a new clinical entity, which includes severe intellectual disability, epilepsy, behavioral problems and mild dysmorphic features, caused by biallelic variants in ALG14.

  • 7. Nylander, P O
    et al.
    Drugge, U
    Holmgren, G
    Adolfsson, Rolf
    Umeå universitet, Medicinska fakulteten, Institutionen för klinisk vetenskap, Psykiatri.
    Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL): a genealogical study of Swedish families of probable Finnish background.1996Inngår i: Clinical Genetics, ISSN 0009-9163, E-ISSN 1399-0004, Vol. 50, nr 5, s. 353-7Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Four Swedish families in northern Sweden with polycystic lipomembranous osteodysplasia (PLO-SL) were studied genealogically. Historical and genealogical date provided evidence for a Finnish origin. Both parents of two of the families could be traced back to Finnish ancestors, and the other two families had a common origin in a region with a known Finnish influence, but without evidence for Finnish ancestry. PLO-SL is the first rare monogenic disease with an autosomal recessive inheritance in Sweden with a probable Finnish origin.

  • 8.
    Olsson, Malin
    et al.
    Umeå universitet, Medicinska fakulteten, Institutionen för folkhälsa och klinisk medicin, Medicin.
    Hellman, Urban
    Umeå universitet, Medicinska fakulteten, Institutionen för folkhälsa och klinisk medicin, Medicin.
    Planté-Bordeneuve, V
    Jonasson, J
    Lång, K
    Suhr, Ole B
    Umeå universitet, Medicinska fakulteten, Institutionen för folkhälsa och klinisk medicin, Medicin.
    Mitochondrial haplogroup is associated with the phenotype of familial amyloidosis with polyneuropathy in Swedish and French patients2009Inngår i: Clinical Genetics, ISSN 0009-9163, E-ISSN 1399-0004, Vol. 75, nr 2, s. 163-168Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Familial amyloidotic polyneuropathy (FAP) is a monogenic disease caused by mutations in the transthyretin (TTR) gene. The phenotype of the most common TTR mutation, V30M, varies within and between populations. Oxidative stress and protein misfolding are cellular processes involved in the development of FAP. Because the mitochondria are important for both these processes, we investigated if mitochondrial haplogroups are related to age at onset of the disease in Swedish and French FAP patients. Mitochondrial haplogroup analysis was performed on 25 early-onset (below 40 years) and 29 late-onset (above 51 years) Swedish FAP patients. DNA from 249 Swedish individuals served as controls. In addition, 6 early-onset and 17 late-onset French FAP patients were examined with 25 French controls. The haplogroup distribution among late-onset Swedish and French cases was similar to that found in the general populations, whereas among early-onset cases a different haplogroup distribution was seen. The relatively rare haplogroup K was significantly more common among early-onset cases. Our findings substantiate the suggestion that a genetic component, still to be found, affecting mitochondrial function has an impact on the amyloid generating process in transthyretin amyloidosis.

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