title: Crisponi/CISS1 syndrome: A case series.
abstract: Crisponi/CISS1 syndrome (MIM#272430) is a rare autosomal recessive disease characterized by major feeding difficulties, camptodactyly, and anhidrosis in early childhood; and the subsequent development of paradoxical cold-induced sweating and scoliosis later in life. The syndrome is caused by biallelic mutations in CRLF1 or, much less commonly, CLCF1. Although genotype/phenotype correlation has been elusive, it has been suggested that the level of the mutant protein may correlate with the phenotypic severity. However, we show in this series of 12 patients from four families, all previously unpublished, that the homogeneity of the recently described c.983dupG (p.Ser328Argfs∗2) mutation in CRLF1 was associated with a highly variable degree of severity, and that the phenotype significantly overlaps with the recently described COG6-related anhidrosis syndrome (MIM#615328). Another fifth previously unpublished family is also described with a novel mutation in CRLF1, c.605delC (p.Ala202Valfs*32). In Saudi Arabia the prevalence of the syndrome is probably underestimated due to the difficulty in making the diagnosis considering the complex phenotype with typical neonatal and evolutive features.
authors.affiliation: Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
authors.forename: Amal M
authors.initials: AM
authors.lastname: Alhashem
authors.affiliation: Department of Medical Services-Birth Defect Registry (MSD-BDR) Office, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
authors.forename: Muhammad Ali
authors.initials: MA
authors.lastname: Majeed-Saidan
authors.affiliation: Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
authors.forename: Amer N
authors.initials: AN
authors.lastname: Ammari
authors.affiliation: Department of Obstetrics and Gynecology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
authors.forename: Maha S
authors.initials: MS
authors.lastname: Alrakaf
authors.affiliation: Department of Radiology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
authors.forename: Maha
authors.initials: M
authors.lastname: Nojoom
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Sateesh
authors.initials: S
authors.lastname: Maddirevula
authors.affiliation: Department of Pediatrics, King Fahad Medical City, Riyadh, Saudi Arabia.
authors.forename: Eissa
authors.initials: E
authors.lastname: Faqeih
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.|Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
authors.affiliation: Department of Pediatrics, Hospital Lillebaelt-Kolding, Kolding, Denmark.
authors.forename: Ester
authors.initials: E
authors.lastname: Garne
authors.affiliation: Department of Obstetrics and Gynecology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
authors.forename: Ahmad M
authors.initials: AM
authors.lastname: Kurdi
mesh_terms: D033942:Adaptor Proteins, Vesicular Transport / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D016207:Cytokines / Q000235:genetics; D003645:Death, Sudden; D019066:Facies; D005260:Female; D056726:Genetic Association Studies; D006228:Hand Deformities, Congenital / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D006945:Hyperhidrosis / Q000235:genetics* / Q000503:physiopathology; D007007:Hypohidrosis / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D009154:Mutation; D010375:Pedigree; D018121:Receptors, Cytokine / Q000235:genetics*; D014313:Trismus / Q000151:congenital* / Q000235:genetics / Q000503:physiopathology
chemical_list: D033942:Adaptor Proteins, Vesicular Transport; C000606074:CLCF1 protein, human; C553748:COG6 protein, human; D016207:Cytokines; D018121:Receptors, Cytokine; C113554:cytokine-like factor-1
keywords: CISS1; COG6; CRLF1; Crisponi syndrome; cold-induced sweating