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68 Possible Causes for H- or V-Shaped Chin Dimple, Mutation in the EVC2 Gene

  • Curry Hall Syndrome

    For FSS, they required the following: microstomia, whistling-face appearance (pursed lips), H or V-shaped chin dimpling, prominent nasolabial folds, and major contractures[systematicreviewsjournal.biomedcentral.com] Most cases of Weyers acrofacial dysostosis result from mutations in the EVC2 gene.[ghr.nlm.nih.gov] Discussion WAD is caused by heterozygous mutation in the EVC or the EVC2 gene located on the chromosome 4p16.2.[amhsjournal.org]

  • Ellis-Van Creveld Syndrome

    It is caused by biallelic mutations in the EVC or EVC2 gene.[ncbi.nlm.nih.gov] Molecular analysis of the EVC and EVC2 genes revealed heterozygous mutations in the EVC2 gene.[ncbi.nlm.nih.gov] This further expands the mutations in the EVC or EVC2 genes resulting in the EVC syndrome.[ncbi.nlm.nih.gov]

    Missing: H- or V-Shaped Chin Dimple
  • Freeman-Sheldon Syndrome

    […] or "V" shaped chin dimple.[symptoma.com] dimple shaped like an "H" or "V".[ghr.nlm.nih.gov] […] midface hypoplasia, blepharophimosis, ptosis, a long philtrum, pronounced nasolabial folds, full cheeks, deep-set eyes, down-slanting palpebral fissures, strabismus, and an "H"[symptoma.com]

    Missing: Mutation in the EVC2 Gene
  • Microtia

    Of note, we identified one EVC2 non-synonymous mutation (p.Asp1174Asn) as a potential disease-implicating variant for a human microtia-associated syndrome.[ncbi.nlm.nih.gov] We searched for coding variants of functional significance within six candidate genes in 147 microtia-affected individuals.[ncbi.nlm.nih.gov] After applying three prioritizing algorithms, we highlighted appealing candidate genes for human microtia from the 337 DEGs.[ncbi.nlm.nih.gov]

    Missing: H- or V-Shaped Chin Dimple
  • Short Rib-Polydactyly Syndrome

    […] the EVC2 gene.[pleromama.com] Molecular analysis of fetal tissues showed a paternal-origin heterozygous splice site mutation in intron 7 (c.465-1 G A) in the NEK1 gene, but no mutations in the genes of[ncbi.nlm.nih.gov] The NGS analysis identified novel mutations in the DYNC2H1 gene.[ncbi.nlm.nih.gov]

    Missing: H- or V-Shaped Chin Dimple
  • Cleft Lip

    Four genes (ZNF528, PVRL2, EVC2, CCDC39) were all predicted to be "tolerated," "benign," or "polymorphic" by SIFT, PolyPhen-2, and Mutation Taster.[ncbi.nlm.nih.gov] However, there were 6 gene mutations (ZNF528, PVRL2, methylenetetrahydrofolate reductase [MTHFR], EVC2, DAND5, CCDC39) that were not found on Single-Nucleotide Polymorphism[ncbi.nlm.nih.gov] A total of 1520 mutations were successfully found in a patient using combined tetralogy of Fallot and CLP by the targeted next-generation sequencing.[ncbi.nlm.nih.gov]

    Missing: H- or V-Shaped Chin Dimple
  • Autosomal Dominant Prognathism

    As the mutations in these genes always cause skeletal dysplasia, we suggest that some novel mutations in EVC2 and EVC may be relevant to the form of mandibular prognathism[journals.plos.org] There are 23 function genes in the region. It harbors positional candidate genes of interest such as EVC and EVC2.[journals.plos.org] EVC2 and EVC were considered as candidate genes to influence the bone tissue.[journals.plos.org]

    Missing: H- or V-Shaped Chin Dimple
  • Arrhinia

    […] in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis–van Creveld syndrome Aziz, Abdul / Raza, Syed I. / Ali, Salman / Ahmad, Wasim[tib.eu] 2016 7 Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy Matulevičienė, Aušra / Meškienė, Raimonda / Morkūnienė, Aušra / Ambrozaitytė[tib.eu] Anzeige der Jahrgänge kann aufgrund fehlender Aufsatznachweise unvollständig oder lückenhaft sein, obwohl die Zeitschrift komplett in der TIB verfügbar ist. 1 Novel homozygous mutations[tib.eu]

    Missing: H- or V-Shaped Chin Dimple
  • Autosomal Recessive Deafness 42

    Molecular genetics analysis showed segregation of homozygous nonsense and frameshift mutations in the genes EVC2 and COL11A2, respectively.[karger.com] NGS with a customized skeletal dysplasia panel containing over 370 genes and subsequent bioinformatics analysis disclosed 2 homozygous mutations in EVC2 (c.2653C T; p.Arg885[karger.com] Mutations in EVC and EVC2 each account for approximately half of Ellis-van Creveld syndrome diagnoses, and it is assumed that any additional unidentified genes comprise a[karger.com]

    Missing: H- or V-Shaped Chin Dimple
  • Skeletal Dysplasia

    In the first, a mutation in the EVC2 gene was reported. Target height was 0.28 SDS.[intechopen.com] A second gene ( EVC2 ) located in the same chromosomal region was found to harbour mutations in some EvC patients [ 128 ].[intechopen.com] The entity was mapped at chromosome region 4p16 [ 125, 126 ] and subsequently the EVC gene was cloned [ 127 ].[intechopen.com]

    Missing: H- or V-Shaped Chin Dimple

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