Novel <i><scp>BCOR</scp></i> mutations in patients with oculofaciocardiodental (OFCD) syndrome

Feberwee, H E; Feenstra, Ilse; Oberoi, Snehlata; Sama, Iziah E.; Ockeloen, Charlotte W.; Clum, F; Slavotinek, Anne; Kuijpers, Marianne A.; Dooijes, Dennis; Kuijpers-Jagtman, Anne Marie; Kleefstra, Tjitske; Carels, Carine

doi:10.1111/cge.12125

Cited by 24 publications

(20 citation statements)

References 7 publications

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“…Note . OFCD, N = 66: Danda et al, ; Di Stefano et al, ; Feberwee et al, ; Hilton et al, ; Horn et al, ; Kondo et al, ; Lozic et al, ; Ma et al, ; Ng et al, ; O'Byrne et al, ; Surapornsawasd et al, ; Zhou et al, .…”

Section: Resultsunclassified

“…BCOR belongs to the growing number of X‐chromosomal genes in which mutations cause allelic, overlapping but still distinct phenotypes in females and males. More than 65 females with OFCD carrying a heterozygous null allele of BCOR have been reported in literature up to date (Danda et al, ; Di Stefano et al, ; Feberwee et al, ; Hilton et al, ; Horn et al, ; Kondo et al, ; Ma et al, ; Ng et al, ; O'Byrne et al, ; Surapornsawasd et al, ; Zhou et al, ). In contrast, only four males and one aborted fetus from three families with Lenz microphthalmia have been reported.…”

Section: Discussionmentioning

confidence: 99%

“…This phenotype includes variable microphthalmia, congenital cataracts, facial dysmorphism along with cardiac, dental, and skeletal anomalies. Intelligence is normal in the majority of affected individuals (Danda et al, ; Di Stefano et al, ; Feberwee et al, ; Hilton et al, ; Horn et al, ; Kondo et al, ; Lozic et al, ; Ma et al, ; Ng et al, ; O'Byrne, Laffan, Murray, & Reardon, ; Surapornsawasd, Ogawa, Tsuji, & Moriyama, ; Zhou, Wojcik, Sanders, Rahmani, & Kurup, ). Truncating mutations in females occur either de novo or are inherited in an X‐linked dominant pattern.…”

Section: Introductionmentioning

confidence: 99%

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Microphthalmia is not a mandatory finding in X‐linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu

Kraus

Uebe

Thiel

et al. 2018

American J of Med Genetics Pt A

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Mutations in BCOR cause X‐linked dominant and X‐linked recessive forms of syndromic microphthalmia. By exome sequencing, we identified the recurrent BCOR mutation p.Pro85Leu in two brothers and their unaffected mother. While the older brother's phenotype completely fits the described phenotypic spectrum of X‐linked recessive BCOR‐associated Lenz microphthalmia syndrome, the younger brother showed developmental delay, microcephaly, and skeletal anomalies, but not the key feature of microphthalmia. In contrast to the previously published families, our findings demonstrate a large variability of BCOR‐associated, syndromic phenotypes, indicating incomplete penetrance of p.Pro85Leu with regards to microphthalmia in males.

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Section: Resultsunclassified

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Microphthalmia is not a mandatory finding in X‐linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu

Kraus

Uebe

Thiel

et al. 2018

American J of Med Genetics Pt A

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“…52,53 Es causado por mutaciones heterocigotas en el gen BCOR (OMIM 300485), que codifica una proteína conocida como correpresor BCL6 y se encuentra en el cromosoma Xp11.4. 52,54,55 Este gen se expresa predominantemente durante la embriogénesis temprana, y la proteína codificada BCOR funciona como correpresor transcripcional. 53,55 Esta entidad se caracteriza por anomalías oculares (catarata congénita, microftalmia [52][53][54][55]57,58 o microcórnea, 55 glaucoma secundario), 53,58 características craneofaciales (cara larga y estrecha, tabique nasal alto, 53,[55][56][57][58] punta nasal ancha, 54,[56][57][58] nariz bífida, 52,56 surco nasolabial largo, 54 deformidad de las orejas), 56 paladar alto y estrecho, 52,54 fisura palatina, [52][53][54]56,58 manifestaciones dentales (la radiculomegalia de los dientes permanentes es una característica sistemática, [52][53][54][55][56] además de dentición tardía, dientes de leche persistentes, 54,56,57 oligodoncia 52,53 y DS).…”

Section: Síndrome Oculofaciocardiodentalunclassified

“…53,56 Estas últimas anomalías se deben a que el gen BCOR se expresa en el epitelio y el mesénquima durante las primeras etapas del desarrollo de los dientes. 53 Se observan anomalías cardíacas (comunicación interventricular, comunicación interauricular [52][53][54][55]57 y prolapso de la válvula mitral) 53,57 y anomalías esqueléticas (sindactiliadel segundo y tercer dedo del pie, 54,55 dedos en martillo 55 y sinostosis radiocubital). 55,58 Además, se presentan retraso mental, trastorno por déficit de atención con hiperactividad e hipoacusia.…”

Section: Síndrome Oculofaciocardiodentalunclassified

Principales entidades genéticas asociadas con dientes supernumerarios

2018

Arch Argent Pediatr

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Tooth agenesis and orofacial clefting: genetic brothers in arms?

et al. 2016

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Tooth agenesis and orofacial clefts represent the most common developmental anomalies and their co-occurrence is often reported in patients as well in animal models. The aim of the present systematic review is to thoroughly investigate the current literature (PubMed, EMBASE) to identify the genes and genomic loci contributing to syndromic or non-syndromic co-occurrence of tooth agenesis and orofacial clefts, to gain insight into the molecular mechanisms underlying their dual involvement in the development of teeth and facial primordia. Altogether, 84 articles including phenotype and genotype description provided 9 genomic loci and 26 gene candidates underlying the co-occurrence of the two congenital defects: MSX1, PAX9, IRF6, TP63, KMT2D, KDM6A, SATB2, TBX22, TGFα, TGFβ3, TGFβR1, TGFβR2, FGF8, FGFR1, KISS1R, WNT3, WNT5A, CDH1, CHD7, AXIN2, TWIST1, BCOR, OFD1, PTCH1, PITX2, and PVRL1. The molecular pathways, cellular functions, tissue-specific expression and disease association were investigated using publicly accessible databases (EntrezGene, UniProt, OMIM). The Gene Ontology terms of the biological processes mediated by the candidate genes were used to cluster them using the GOTermMapper (Lewis-Sigler Institute, Princeton University), speculating on six super-clusters: (a) anatomical development, (b) cell division, growth and motility, (c) cell metabolism and catabolism, (d) cell transport, (e) cell structure organization and (f) organ/system-specific processes. This review aims to increase the knowledge on the mechanisms underlying the co-occurrence of tooth agenesis and orofacial clefts, to pave the way for improving targeted (prenatal) molecular diagnosis and finally to reflect on therapeutic or ultimately preventive strategies for these disabling conditions in the future.Electronic supplementary materialThe online version of this article (doi:10.1007/s00439-016-1733-z) contains supplementary material, which is available to authorized users.

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Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome

Cited by 24 publications

References 7 publications

Microphthalmia is not a mandatory finding in X‐linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu

Microphthalmia is not a mandatory finding in X‐linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu

Principales entidades genéticas asociadas con dientes supernumerarios

Tooth agenesis and orofacial clefting: genetic brothers in arms?

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