High incidence of short rib‐polydactyly syndrome type IV in a Hungarian Roma subpopulation

Kovács, Nóra; Sarkany, I.; Mohay, Gabriella; Adamovich, K; Ertl, Tibor; Kosztolányi, György; Kellermayer, Richárd

doi:10.1002/ajmg.a.31461

Cited by 5 publications

(5 citation statements)

References 6 publications

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“…However, dysplastic tibia also occur in OFD4 (Mohr-Majewski syndrome, Baraitser-Burn syndrome; MIM 258860), presenting with variable thoracic constriction, pre- and postaxial polydactyly of hands and feet, cleft and pseudo-cleft of the lip and/or palate, lobulated tongue, cystic dysplastic kidney and liver involvement, brain malformations [28], severe bilateral deafness [29] and coloboma of the eye [30]. Orofacial clefts, cerebral malformations and renal involvement are also observed in SRPS-II [23, 31], and SRPS-IV [3, 20, 32, 33].…”

Section: Clinical Features Of Ciliary Chondrodysplasiasmentioning

confidence: 99%

“…The term “ciliary chondrodysplasias” summarizes inherited conditions resulting from cilia malfunction affecting skeletal development in mammals. Estimated disease frequencies are 1 in 200,000 [1] to more than 1,000,000 in western populations [2], but can be higher in genetically isolated populations [3]. However, as no large patient studies have been performed, no exact numbers are available.…”

Section: Introductionmentioning

confidence: 99%

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Clinical genetics and pathobiology of ciliary chondrodysplasias

Schmidts

2015

J Pediatr Genet

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Ciliary chondrodysplasias represent a heterogenous group of rare, nearly exclusively autosomal recessively inherited developmental conditions. While the skeletal phenotype, mainly affecting limbs, ribs and sometimes the craniofacial skeleton, is predominant, extraskeletal disease affecting the kidneys, liver, heart, eyes and other organs and tissues is observed inconsistently. Significant lethality, resulting from cardiorespiratory failure due to thoracic constriction as well as from renal and hepatic insufficiency or primary cardiac failure due to congenital heart disease, is observed with these conditions. The underlying genetic defects as well as developmental biology and cell biology work undertaken using animal model systems, suggest that these rare conditions result from ciliary malfunction. The skeletal phenotype is believed to result from imbalances in the hedgehog signaling pathway that normally occurs in functional cilia in chondrocytes. Although phenotypes have been historically distinguished based on clinical features into short-rib polydactyly syndrome, Jeune asphyxiating thoracic dystrophy, Mainzer-Saldino syndrome, Sensenbrenner syndrome (cranioectodermal dysplasia), oral-facial-digital syndrome and Ellis-van Creveld syndrome, recent research suggests that there is significant genetic as well as phenotypic overlap between the conditions. This review discusses ciliary chondrodysplasias from phenotypic hallmarks to clinical management and summarizes progress in identification of the underlying molecular mechanisms as well as potential future therapeutic perspectives.

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Section: Clinical Features Of Ciliary Chondrodysplasiasmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Clinical genetics and pathobiology of ciliary chondrodysplasias

Schmidts

2015

J Pediatr Genet

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“…This clinical heterogeneity might echo an underlying genetic heterogeneity involving IFT80 mutations in SRPS. Moreover, Kovács et al reported a high incidence of BLS cases in a small population of Hungarian Roma (gypsies), including siblings, which would ascertain the clinical diversity in BLS, even when a single gene might be involved (Kovács et al, ). Sillence et al even suggested that BLS and SRPS Type I/III be classified as “non Majewski SRPS” (Sillence, ).…”

Section: Discussionmentioning

confidence: 99%

“…BLS, Beemer‐Langer syndrome (SRPS Type IV); SRPS, short‐ribs polydactyly syndrome; NA, not available. 01‐F1‐1, Wladimiroff et al (); 02‐F1‐1, Black et al, (1982); 03‐F1‐1 and 03‐F1‐2, Le Marec et al (1982); 04‐F1‐1 and 04‐F2‐1, Beemer et al (); 05‐F1‐1 and 05‐F1‐2, Passarge et al (1983); 06‐F1‐1, Garcia et al (1988); 07‐F1‐1, Winter et al (1988); 08‐F1‐1, Chen et al (1989); 09‐F1‐1 and 09‐F1‐2, Hennekam et al (1991); 10‐F1‐1, Yang et al (1991); 11‐F1‐1, Dominick et al (1991); 12‐F1‐1, Lin, Doshi, Flom, Tenenholz, and Filkins (); 13‐F1‐1 and 13‐F1‐2, Balci et al (1991); 14‐F1‐1, Cideciyan, Rodriguez, Haun, Abdenour, and Bruce (); 15‐F1‐1 and 15‐F1‐2, Elçioǧlu et al (1996); 16‐F1‐1, Myong et al (1998); 17‐F1‐1, Vujanic and Hunt (); 18, Kovács et al (); 19‐F1‐1, Silveira, Moreno, and Cavalcanti ().…”

Section: Introductionmentioning

confidence: 99%

Mutations in IFT80 cause SRPS Type IV. Report of two families and review

Bizaoui

Huber

Kohaut

et al. 2019

American J of Med Genetics Pt A

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“…Hungary is the fourth in Europe with respect to the size of its Roma population, which is estimated about 700,000 people [4]. On the other hand, the Roma represents an understudied population in human genetics despite its size as the largest minority within Hungary [27][28][29][30][31].…”

Section: The Roma Population In Hungarymentioning

confidence: 99%

Population Pharmacogenomics and Personalized Medicine Research in Hungary: Achievements and Lessons Learned

Sipeky

Kéri

Kiss

et al. 2010

CPPM

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There have been a number of notable strides in Hungary in the field of population pharmacogenomics. This paper aims to summarize and share the recent experiences in population genomics and personalized medicine in Hungary with leaders of the Genomic National Technology Platform. The present day Hungary differs from other populations in the region as Hungary was established some 1100 years ago, with founders of the ancestral Hungarian population originating from the east side of the Urals. Additionally, the Roma population of about 700,000 represents the largest ethnic minority living in Hungary. In a series of investigations, we found significant differences between the Hungarian and Roma populations in clinically relevant pharmacogenomics targets such as VKORC1 and CYP2C9 genes. Pharmacogenomics applications are also of interest from the standpoint of biomarker-guided drug discovery in Hungary which we highlight briefly in this paper. Regulatory, ethical and economic aspects of genomics are other dimensions crucial for efficient transition of basic genomics discoveries from laboratory to the clinic. Importantly, Hungary has a Parliamental Act for regulation of genetic diagnostic and research test procedures, and for regulation of biobanks since 2008. Diagnostic molecular pharmacogenomics tests are reimbursed from the same insurance budget as with the other molecular biology based tests in Hungary. Personalized medicine diagnostics require further considerations on how best to integrate and reimburse them in routine healthcare as this new field evolves in Hungary.

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High incidence of short rib‐polydactyly syndrome type IV in a Hungarian Roma subpopulation

Cited by 5 publications

References 6 publications

Clinical genetics and pathobiology of ciliary chondrodysplasias

Clinical genetics and pathobiology of ciliary chondrodysplasias

Mutations in IFT80 cause SRPS Type IV. Report of two families and review

Population Pharmacogenomics and Personalized Medicine Research in Hungary: Achievements and Lessons Learned

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