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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Cossu, Carla Incani, Federica Serra, Maria Luisa Coiana, Alessandra Crisponi, Giangiorgio Boccone, Loredana Rosatelli, Maria Cristina |
| Description | Author Affiliation: Cossu C ( 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.); Incani F ( 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.); Serra ML ( 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.); Coiana A ( 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.); Crisponi G ( Clinica Sant'Anna, Via la Vega, 9, 09127 Cagliari, Italy. Electronic address: crisponi@gmail.com.); Boccone L ( Clinica pediatrica II, Ospedale Pediatrico Microcitemico A.Cao, AO Brotzu, via Edward Jenner s/n, 09121 Cagliari, Italy. Electronic address: loredana.boccone@aob.it.); Rosatelli MC ( 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.) |
| 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. |
| File Format | HTM / HTML |
| ISSN | 00098981 |
| Journal | Clinica Chimica Acta |
| Volume Number | 455 |
| e-ISSN | 18733492 |
| Language | English |
| Publisher | Elsevier |
| Publisher Date | 2016-04-01 |
| Publisher Place | Netherlands |
| Access Restriction | One Nation One Subscription (ONOS) |
| Content Type | Text |
| Resource Type | Article |
| Subject | Biochemistry (medical) Clinical Biochemistry Biochemistry |
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