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Expanding the Mutational Spectrum of CRLF 1 in C risponi/ CISS 1 Syndrome
Author(s) -
Piras Roberta,
Chiappe Francesca,
Torraca Ilaria La,
Buers Insa,
Usala Gianluca,
Angius Andrea,
Akin Mustafa Ali,
BaselVanagaite Lina,
Benedicenti Francesco,
Chiodin Elisabetta,
El Assy Osama,
FeingoldZadok Michal,
Guibert Javier,
Kamien Benjamin,
Kasapkara Çiğdem Seher,
Kılıç Esra,
Boduroğlu Koray,
Kurtoglu Selim,
Manzur Adnan Y,
Onal Eray Esra,
Paderi Enrica,
Roche Carmen Herrero,
Tümer Leyla,
Unal Sezin,
Utine Gülen Eda,
Zanda Giovanni,
Zankl Andreas,
Zampino Giuseppe,
Crisponi Giangiorgio,
Crisponi Laura,
Rutsch Frank
Publication year - 2014
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22522
Subject(s) - biology , compound heterozygosity , genetics , mutation , loss of heterozygosity , mendelian inheritance , gene , scoliosis , omim : online mendelian inheritance in man , bioinformatics , allele , phenotype
Crisponi syndrome (CS) and cold-induced sweating syndrome type 1 (CISS1) share clinical characteristics, such as dysmorphic features, muscle contractions, scoliosis, and cold-induced sweating, with CS patients showing a severe clinical course in infancy involving hyperthermia associated with death in most cases in the first years of life. To date, 24 distinct CRLF1 mutations have been found either in homozygosity or in compound heterozygosity in CS/CISS1 patients, with the highest prevalence in Sardinia, Turkey, and Spain. By reporting 11 novel CRLF1 mutations, here we expand the mutational spectrum of CRLF1 in the CS/CISS1 syndrome to a total of 35 variants and present an overview of the different molecular and clinical features of all of them. To catalog all the 35 mutations, we created a CRLF1 mutations database, based on the Leiden Open (source) Variation Database (LOVD) system (https://grenada.lumc.nl/LOVD2/mendelian_genes/variants). Overall, the available functional and clinical data support the fact that both syndromes actually represent manifestations of the same autosomal-recessive disorder caused by mutations in the CRLF1 gene. Therefore, we propose to rename the two overlapping entities with the broader term of Crisponi/CISS1 syndrome.