title: New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy.
abstract: Jeune asphyxiating thoracic dystrophy (JATD; Jeune syndrome, MIM 208500) is a rare autosomal recessive chondrodysplasia, phenotypically overlapping with short-rib polydactyly syndromes (SRPS). JATD typical hallmarks include skeletal abnormalities such as narrow chest, shortened ribs, limbs shortened bones, extra fingers and toes (polydactyly), as well as extraskeletal manifestations (renal, liver and retinal disease). To date, disease-causing mutations have been found in several genes, highlighting a marked genetic heterogeneity that prevents a molecular diagnosis of the disease in most families. Here, we report the results of whole-exome sequencing (WES) carried out in four JATD cases, belonging to three unrelated families of Sardinian origin. The exome analysis allowed to identify mutations not previously reported in the DYNC2H1 (MIM 603297) and WDR60 (MIM 615462) genes, both codifying for ciliary intraflagellar transport components whose mutations are known to cause Jeune syndrome.
authors.affiliation: Dipartimento di Sanità Pubblica, Medicina Clinica e Molecolare, Unità di Ricerca di Scienze Biomediche e Biotecnologie, Università degli Studi di Cagliari, via Edward Jenner s/n, 09121 Cagliari, Italy. Electronic address: carlacossu983@gmail.com.
authors.forename: Carla
authors.initials: C
authors.lastname: Cossu
authors.affiliation: Dipartimento di Sanità Pubblica, Medicina Clinica e Molecolare, Unità di Ricerca di Scienze Biomediche e Biotecnologie, Università degli Studi di Cagliari, via Edward Jenner s/n, 09121 Cagliari, Italy. Electronic address: feincani@yahoo.it.
authors.forename: Federica
authors.initials: F
authors.lastname: Incani
authors.affiliation: Dipartimento di Sanità Pubblica, Medicina Clinica e Molecolare, Unità di Ricerca di Scienze Biomediche e Biotecnologie, Università degli Studi di Cagliari, via Edward Jenner s/n, 09121 Cagliari, Italy. Electronic address: luisa.s@inwind.it.
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Serra
authors.affiliation: Dipartimento di Sanità Pubblica, Medicina Clinica e Molecolare, Unità di Ricerca di Scienze Biomediche e Biotecnologie, Università degli Studi di Cagliari, via Edward Jenner s/n, 09121 Cagliari, Italy. Electronic address: acoiana@medicina.unica.it.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Coiana
authors.affiliation: Clinica Sant'Anna, Via la Vega, 9, 09127 Cagliari, Italy. Electronic address: crisponi@gmail.com.
authors.forename: Giangiorgio
authors.initials: G
authors.lastname: Crisponi
authors.affiliation: Clinica pediatrica II, Ospedale Pediatrico Microcitemico A.Cao, AO Brotzu, via Edward Jenner s/n, 09121 Cagliari, Italy. Electronic address: loredana.boccone@aob.it.
authors.forename: Loredana
authors.initials: L
authors.lastname: Boccone
authors.affiliation: Dipartimento di Sanità Pubblica, Medicina Clinica e Molecolare, Unità di Ricerca di Scienze Biomediche e Biotecnologie, Università degli Studi di Cagliari, via Edward Jenner s/n, 09121 Cagliari, Italy. Electronic address: mariac.rosatelli@aob.it.
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Rosatelli
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D056445:Cytoplasmic Dyneins / Q000235:genetics*; D004613:Ellis-Van Creveld Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D056445:Cytoplasmic Dyneins; C099883:DYNC2H1 protein, human; C584144:DYNC2I1 protein, human
keywords: DYNC2H1; Jeune syndrome; WDR60; short-rib thoracic dystrophies; whole-exome sequencing