Laura Crisponi

@article{pmid31497877,

title = {Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts},

author = {Buers, I. and Persico, I. and Schöning, L. and Nitschke, Y. and Di Rocco, M. and Loi, A. and Sahi, P. K. and Utine, G. E. and Bayraktar-Tanyeri, B. and Zampino, G. and Crisponi, G. and Rutsch, F. and Crisponi, L.},

year  = {2020},

date = {2020-01-01},

journal = {Clin Genet},

volume = {97},

number = {1},

pages = {209--221},

abstract = {Crisponi/cold-induced sweating syndrome (CS/CISS) is an autosomal recessive disease characterized by hyperthermia, camptodactyly, feeding and respiratory difficulties often leading to sudden death in the neonatal period. The affected individuals who survived the first critical years of life, develop cold-induced sweating and scoliosis in early childhood. The disease is caused by variants in the CRLF1 or in the CLCF1 gene. Both proteins form a heterodimeric complex that acts on cells expressing the ciliary neurotrophic factor receptor (CNTFR). CS/CISS belongs to the family of "CNTFR-related disorders" showing a similar clinical phenotype. Recently, variants in other genes, including KLHL7, NALCN, MAGEL2 and SCN2A, previously linked to other diseases, have been associated with a CS/CISS-like phenotype. Therefore, retinitis pigmentosa and Bohring-Optiz syndrome-like (KLHL7), Congenital contractures of the limbs and face, hypotonia, and developmental delay syndrome (NALCN), Chitayat-Hall/Schaaf-Yang syndrome (MAGEL2), and early infantile epileptic encephalopathy-11 syndrome (SCN2A) all share an overlapping phenotype with CS/CISS, especially in the neonatal period. This review aims to summarize the existing literature on CS/CISS, focusing on the current state of differential diagnosis, pathogenesis and treatment concepts in order to achieve an accurate and rapid diagnosis. This will improve patient management and enable specific treatments for the affected individuals.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid25231870,

title = {Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche},

author = {Perry, J. R. and Day, F. and Elks, C. E. and Sulem, P. and Thompson, D. J. and Ferreira, T. and He, C. ....},

year  = {2014},

date = {2014-01-01},

journal = {Nature},

volume = {514},

number = {7520},

pages = {92--97},

abstract = {Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality. Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation, but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear. Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P < 5 × 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with three loci (DLK1-WDR25, MKRN3-MAGEL2 and KCNK9) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. Pathway analyses implicated nuclear hormone receptors, particularly retinoic acid and γ-aminobutyric acid-B2 receptor signalling, among novel mechanisms that regulate pubertal timing in humans. Our findings suggest a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{stolk_meta-analyses_2012,

title = {Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways},

author = {Stolk, Lisette and Perry, John R B and Chasman, Daniel I and He, Chunyan and Mangino, Massimo and Sulem, Patrick and Barbalic, Maja and Broer, Linda and Byrne, Enda M and ... and Sanna, Serena and Schlessinger, David and Spector, Tim D and Stefansson, Kari and Streeten, Elizabeth A and Thorsteinsdottir, Unnur and Uda, Manuela and Uitterlinden, Andr{é} G and van Duijn, Cornelia M and V{ö}lzke, Henry and Murray, Anna and Murabito, Joanne M and Visser, Jenny A and Lunetta, Kathryn L},

doi = {10.1038/ng.1051},

issn = {1546-1718},

year  = {2012},

date = {2012-01-01},

journal = {Nature Genetics},

volume = {44},

number = {3},

pages = {260--268},

abstract = {To newly identify loci for age at natural menopause, we carried out a meta-analysis of 22 genome-wide association studies (GWAS) in 38,968 women of European descent, with replication in up to 14,435 women. In addition to four known loci, we identified 13 loci newly associated with age at natural menopause (at P < 5 × 10(-8)). Candidate genes located at these newly associated loci include genes implicated in DNA repair (EXO1, HELQ, UIMC1, FAM175A, FANCI, TLK1, POLG and PRIM1) and immune function (IL11, NLRP11 and PRRC2A (also known as BAT2)). Gene-set enrichment pathway analyses using the full GWAS data set identified exoDNase, NF-$kappa$B signaling and mitochondrial dysfunction as biological processes related to timing of menopause.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{crisponi_crisponi_2007,

title = {Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.},

author = {Crisponi, Laura and Crisponi, Giangiorgio and Meloni, Alessandra and Toliat, Mohammad Reza and Nurnberg, Gudrun and Usala, Gianluca and Uda, Manuela and Masala, Marco and Hohne, Wolfgang and Becker, Christian and Marongiu, Mara and Chiappe, Francesca and Kleta, Robert and Rauch, Anita and Wollnik, Bernd and Strasser, Friedrich and Reese, Thomas and Jakobs, Cornelis and Kurlemann, Gerd and Cao, Antonio and Nurnberg, Peter and Rutsch, Frank},

doi = {10.1086/516843},

issn = {0002-9297 0002-9297},

year  = {2007},

date = {2007-01-01},

journal = {Am J Hum Genet},

volume = {80},

number = {5},

pages = {971--981},

abstract = {Crisponi syndrome is a severe autosomal recessive condition that is phenotypically characterized by abnormal, paroxysmal muscular contractions resembling neonatal tetanus, large face, broad nose, anteverted nares, camptodactyly, hyperthermia, and sudden death in most cases. We performed homozygosity mapping in five Sardinian and three Turkish families with Crisponi syndrome, using high-density single-nucleotide polymorphism arrays, and identified a critical region on chromosome 19p12-13.1. The most prominent candidate gene was CRLF1, recently found to be involved in the pathogenesis of cold-induced sweating syndrome type 1 (CISS1). CISS1 belongs to a group of conditions with overlapping phenotypes, also including cold-induced sweating syndrome type 2 and Stuve-Wiedemann syndrome. All these syndromes are caused by mutations of genes of the ciliary neurotrophic factor (CNTF)-receptor pathway. Here, we describe the identification of four different CRLF1 mutations in eight different Crisponi-affected families, including a missense mutation, a single-nucleotide insertion, and a nonsense and an insertion/deletion (indel) mutation, all segregating with the disease trait in the families. Comparison of the mutation spectra of Crisponi syndrome and CISS1 suggests that neither the type nor the location of the CRLF1 mutations points to a phenotype/genotype correlation that would account for the most severe phenotype in Crisponi syndrome. Other, still-unknown molecular factors may be responsible for the variable phenotypic expression of the CRLF1 mutations. We suggest that the syndromes can comprise a family of "CNTF-receptor-related disorders," of which Crisponi syndrome would be the newest member and allelic to CISS1.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid15056605,

title = {Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development},

year  = {2004},

date = {2004-06-01},

journal = {Hum Mol Genet},

volume = {13},

number = {11},

pages = {1171--1181},

abstract = {FOXL2 mutations cause gonadal dysgenesis or premature ovarian failure (POF) in women, as well as eyelid/forehead dysmorphology in both sexes (the 'blepharophimosis-ptosis-epicanthus inversus syndrome', BPES). Here we report that mice lacking Foxl2 recapitulate relevant features of human BPES: males and females are small and show distinctive craniofacial morphology with upper eyelids absent. Furthermore, in mice as in humans, sterility is confined to females. Features of Foxl2 null animals point toward a new mechanism of POF, with all major somatic cell lineages failing to develop around growing oocytes from the time of primordial follicle formation. Foxl2 disruption thus provides a model for histogenesis and reproductive competence of the ovary.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid11175783,

title = {The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome},

author = {Crisponi, L. and Deiana, M. and Loi, A. and Chiappe, F. and Uda, M. and Amati, P. and Bisceglia, L. and Zelante, L. and Nagaraja, R. and Porcu, S. and Ristaldi, M. S. and Marzella, R. and Rocchi, M. and Nicolino, M. and Lienhardt-Roussie, A. and Nivelon, A. and Verloes, A. and Schlessinger, D. and Gasparini, P. and Bonneau, D. and Cao, A. and Pilia, G.},

year  = {2001},

date = {2001-02-01},

journal = {Nat Genet},

volume = {27},

number = {2},

pages = {159--166},

abstract = {In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure. Type II BPES shows only the eyelid defects, but both types map to chromosome 3q23. We have positionally cloned a novel, putative winged helix/forkhead transcription factor gene, FOXL2, that is mutated to produce truncated proteins in type I families and larger proteins in type II. Consistent with an involvement in those tissues, FOXL2 is selectively expressed in the mesenchyme of developing mouse eyelids and in adult ovarian follicles; in adult humans, it appears predominantly in the ovary. FOXL2 represents a candidate gene for the polled/intersex syndrome XX sex-reversal goat.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}