Browsing by Author "Nampoothiri, S."

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Arterial tortuosity syndrome: 40 new families and literature review
(Nature Publishing Group, 2018) Beyens, A.; Albuisson, J.; Boel, A.; Al-Essa, M.; Al-Manea, W.; Bonnet, D.; Bostan, O.; Boute, O.; Busa, T.; Chanham, ,N.; Cil, E.; Couke, P.J.; Cousin, M.A.; Dasouki, M.; Da Backer, J.; De Paepe, A.; de Schepper, S.; de Silva, D.; Devriendt, K.; De Wandele, I.; Deyle, D.R.; Dietz, H.; Dupuis-Giroid, S.; Fontenot, E.; Fischer-Zirnsak, B.; Gezdirici, A.; Ghoumid, J.; Giuliano, F.; Baena, N; Haider, M.Z.; Hardin, J.S.; Jeunemaitre, X.; Klee, E.W.; Kornak, U.; Landecho, M.F.; Legrand, A.; Loeys, B.; Lyonnet, S.; Michael, H.; Moceri, P.; Mohammed, S.; Muino-Mosquera, L.; Nampoothiri, S.; Picher, K.; Prescott, k.; Rajeb, A.; Ramos-Arroyo, M.; Rossi, M.; Salih, M.; Seidahmed, M.Z.; Schaefer, E.; Steichen-Gersdorf, E.; Temel, S.; Uysal, F.; Vanhomwegen, M.; Van Laer, L.; Van Maldergem, L.; Warner, D.; Willaert, A.; Collins, T.R.; Taylor, A.; Davis, E.C.; Zarate, Y.; Callewaert, B.
PurposeWe delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10.MethodsWe retrospectively characterized 40 novel ATS families (50 patients) and reviewed the 52 previously reported patients. We performed histology and electron microscopy (EM) on skin and vascular biopsies and evaluated TGF-β signaling with immunohistochemistry for pSMAD2 and CTGF.ResultsStenoses, tortuosity, and aneurysm formation are widespread occurrences. Severe but rare vascular complications include early and aggressive aortic root aneurysms, neonatal intracranial bleeding, ischemic stroke, and gastric perforation. Thus far, no reports unequivocally document vascular dissections or ruptures. Of note, diaphragmatic hernia and infant respiratory distress syndrome (IRDS) are frequently observed. Skin and vascular biopsies show fragmented elastic fibers (EF) and increased collagen deposition. EM of skin EF shows a fragmented elastin core and a peripheral mantle of microfibrils of random directionality. Skin and end-stage diseased vascular tissue do not indicate increased TGF-β signaling.ConclusionOur findings warrant attention for IRDS and diaphragmatic hernia, close monitoring of the aortic root early in life, and extensive vascular imaging afterwards. EM on skin biopsies shows disease-specific abnormalities. In the published version of this paper the author Neus Baena's name was incorrectly given as Neus Baena Diez. This has now been corrected in both the HTML and PDF versions of the paper.(Baena N)Genetics in Medicine 2018; Sep 10
Correction:Arterial tortuosity syndrome: 40 new families and literature review
(Nature Publishing Group, 2019) Beyens, A.; Albuisson, J.; Boel, A.; Al-Essa, M.; Al-Manea, W.; Bonnet, D.; Bostan, O.; Boute, O.; Busa, T.; Chanham, N.; Cil, E.; Couke, P.J.; Cousin, M.A.; Dasouki, M.; Da Backer, J.; De Paepe, A.; de Schepper, S.; de Silva, D.; Devriendt, K.; De Wandele, I.; Deyle, D.R.; Dietz, H.; Dupuis-Giroid, S.; Fontenot, E.; Fischer-Zirnsak, B.; Gezdirici, A.; Ghoumid, J.; Giuliano, F.; Baena, N.; Haider, M.Z.; Hardin, J.S.; Jeunemaitre, X.; Klee, E.W.; Kornak, U.; Landecho, M.F.; Legrand, A.; Loeys, B.; Lyonnet, S.; Michael, H.; Moceri, P.; Mohammed, S.; Muino-Mosquera, L.; Nampoothiri, S.; Picher, K.; Prescott, K.; Rajeb, A.; Ramos-Arroyo, M.; Rossi, M.; Salih, M.; Seidahmed, M.Z.; Schaefer, E.; Steichen-Gersdorf, E.; Temel, S.; Uysal, F.; Vanhomwegen, M.; Van Laer, L.; Van Maldergem, L.; Warner, D.; Willaert, A.; Collins, T.R.; Taylor, A.; Davis, E.C.; Zarate, Y.; Callewaert, B.
In the published version of this paper the author Neus Baena's name was incorrectly given as Neus Baena Diez. This has now been corrected in both the HTML and PDF versions of the paper. Erratum for:Arterial tortuosity syndrome: 40 new families and literature review. Beyens A. et al. [Genet Med. 2018;20(10):1236-1245. doi: 10.1038/gim.2017.253] .
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families:
(Wiley-Blackwell, 2016) Urquhart, J.; Roberts, R.; de Silva, D.; Shalev, S.; Chervinsky, E.; Nampoothiri, S.; Sznajer, Y.; Revencu, N.; Gunasekera, R.; Suri, M.; Ellingford, J.; Williams, S.; Bhaskar, S.; Clayton-Smith, J.
The 3MC syndromes are a group of rare autosomal recessive disorders where the main clinical features are cleft lip and palate, hypertelorism, highly arched eyebrows, caudal appendage, postnatal growth deficiency, and genitourinary tract anomalies. Ophthalmological abnormalities, most notably anterior chamber defects may also be seen. We describe the clinical and molecular findings in 13 individuals with suspected 3MC syndrome from 12 previously unreported families. The exclusion of the MASP1 and COLEC11 Loci in two individuals from different consanguineous families and the absence of mutations in four further individuals sequenced for both genes raises the possibility that that there is further genetic heterogeneity of 3MC syndrome. © 2016 Wiley Periodicals, Inc.