KEGG DISEASE: Oral-facial-digital syndrome

KEGG

DISEASE: Oral-facial-digital syndrome

Entry

H00454                      Disease

Name

Oral-facial-digital syndrome;
Orofaciodigital syndrome

Description

Oral-facial-digital syndrome is a group of heterogeneous disorders characterized by malformations of the face, oral cavity and digits. OFD type I is a male lethal disorder and due to mutations in the OFD1 gene on the X chromosome. OFD type IV is due to mutations in the TCTN3 gene and patients have tibial dysplasia. OFD type V is due to mutations in the DDX59 gene and patients show the core features of cleft palate, lobulated tongue, and polydactyly.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD25  Syndromes with face or limb anomalies as a major feature
    H00454  Oral-facial-digital syndrome

Gene

(OFD1) OFD1 [HSA:8481] [KO:K16480]
(OFD2) NEK1 [HSA:4750] [KO:K08857]
(OFD4) TCTN3 [HSA:26123] [KO:K19382]
(OFD5) DDX59 [HSA:83479] [KO:K19466]
(OFD6) CPLANE1 [HSA:65250] [KO:K22859]
(OFD14) C2CD3 [HSA:26005] [KO:K16751]
(OFD15) JBTS38 [HSA:9851] [KO:K21765]
(OFD16) TMEM107 [HSA:84314] [KO:K22764]
(OFD17) INTU [HSA:27152] [KO:K22862]
(OFD18) IFT57 [HSA:55081] [KO:K04638]
(OFD19) SCNM1 [HSA:79005] [KO:K24827]
(OFD20) RAB34 [HSA:83871] [KO:K07921]
(OFD21) ZRSR2 [HSA:8233] [KO:K24273]

Other DBs

ICD-11:

MeSH:

OMIM:

311200 252100 258860 174300 277170 615948 617127 617563 617926 617927 620107 620718 301132

Reference

Authors

Macca M, Franco B

Title

The molecular basis of oral-facial-digital syndrome, type 1.

Journal

Am J Med Genet C Semin Med Genet 151C:318-25 (2009)
DOI:10.1002/ajmg.c.30224

Reference

Authors

Darmency-Stamboul V, Burglen L, Lopez E, Mejean N, Dean J, Franco B, Rodriguez D, Lacombe D, Desguerres I, Cormier-Daire V, Doray B, Pasquier L, Gonzales M, Pastore M, Crenshaw ML, Huet F, Gigot N, Aral B, Callier P, Faivre L, Attie-Bitach T, Thauvin-Robinet C

Title

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

Journal

Eur J Med Genet 56:301-8 (2013)
DOI:10.1016/j.ejmg.2013.03.004

Reference

PMID:11179005 (OFD1)

Authors

Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf AS, Sylvie O, Bernard L, Malcolm S, Winter R, Ballabio A, Franco B

Title

Identification of the gene for oral-facial-digital type I syndrome.

Journal

Am J Hum Genet 68:569-76 (2001)
DOI:10.1086/318802

Reference

PMID:27530628 (OFD2)

Authors

Monroe GR, Kappen IF, Stokman MF, Terhal PA, van den Boogaard MH, Savelberg SM, van der Veken LT, van Es RJ, Lens SM, Hengeveld RC, Creton MA, Janssen NG, Mink van der Molen AB, Ebbeling MB, Giles RH, Knoers NV, van Haaften G

Title

Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).

Journal

Eur J Hum Genet 24:1752-1760 (2016)
DOI:10.1038/ejhg.2016.103

Reference

PMID:22883145 (OFD4)

Authors

Thomas S, Legendre M, Saunier S, Bessieres B, Alby C, Bonniere M, Toutain A, Loeuillet L, Szymanska K, Jossic F, Gaillard D, Yacoubi MT, Mougou-Zerelli S, David A, Barthez MA, Ville Y, Bole-Feysot C, Nitschke P, Lyonnet S, Munnich A, Johnson CA, Encha-Razavi F, Cormier-Daire V, Thauvin-Robinet C, Vekemans M, Attie-Bitach T

Title

TCTN3 mutations cause Mohr-Majewski syndrome.

Journal

Am J Hum Genet 91:372-8 (2012)
DOI:10.1016/j.ajhg.2012.06.017

Reference

PMID:23972372 (OFD5)

Authors

Shamseldin HE, Rajab A, Alhashem A, Shaheen R, Al-Shidi T, Alamro R, Al Harassi S, Alkuraya FS

Title

Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome.

Journal

Am J Hum Genet 93:555-60 (2013)
DOI:10.1016/j.ajhg.2013.07.012

Reference

PMID:24178751 (OFD6)

Authors

Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NE, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P, Kaori I, Takanashi J, Le Merrer M, Martinovic J, Noel C, Shboul M, Ho L, Guven Y, Razavi F, Burglen L, Gigot N, Darmency-Stamboul V, Thevenon J, Aral B, Kayserili H, Huet F, Lyonnet S, Le Caignec C, Franco B, Riviere JB, Faivre L, Attie-Bitach T

Title

C5orf42 is the major gene responsible for OFD syndrome type VI.

Journal

Hum Genet 133:367-77 (2014)
DOI:10.1007/s00439-013-1385-1

Reference

PMID:24997988 (OFD14)

Authors

Thauvin-Robinet C, Lee JS, Lopez E, Herranz-Perez V, Shida T, Franco B, Jego L, Ye F, Pasquier L, Loget P, Gigot N, Aral B, Lopes CA, St-Onge J, Bruel AL, Thevenon J, Gonzalez-Granero S, Alby C, Munnich A, Vekemans M, Huet F, Fry AM, Saunier S, Riviere JB, Attie-Bitach T, Garcia-Verdugo JM, Faivre L, Megarbane A, Nachury MV

Title

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.

Journal

Nat Genet 46:905-11 (2014)
DOI:10.1038/ng.3031

Reference

PMID:26643951 (OFD15)

Authors

Chevrier V, Bruel AL, Van Dam TJ, Franco B, Lo Scalzo M, Lembo F, Audebert S, Baudelet E, Isnardon D, Bole A, Borg JP, Kuentz P, Thevenon J, Burglen L, Faivre L, Riviere JB, Huynen MA, Birnbaum D, Rosnet O, Thauvin-Robinet C

Title

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.

Journal

Hum Mol Genet 25:497-513 (2016)
DOI:10.1093/hmg/ddv488

Reference

PMID:26595381 (OFD16)

Authors

Lambacher NJ, Bruel AL, van Dam TJ, Szymanska K, Slaats GG, Kuhns S, McManus GJ, Kennedy JE, Gaff K, Wu KM, van der Lee R, Burglen L, Doummar D, Riviere JB, Faivre L, Attie-Bitach T, Saunier S, Curd A, Peckham M, Giles RH, Johnson CA, Huynen MA, Thauvin-Robinet C, Blacque OE

Title

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.

Journal

Nat Cell Biol 18:122-31 (2016)
DOI:10.1038/ncb3273

Reference

PMID:27158779 (OFD17)

Authors

Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung Y, Choi YJ, Duffourd Y, Faivre L, Riviere JB, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB

Title

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.

Journal

Nat Genet 48:648-56 (2016)
DOI:10.1038/ng.3558

Reference

PMID:27060890 (OFD18)

Authors

Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel AL, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T, Masurel-Paulet A, Riviere JB, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C

Title

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.

Journal

Clin Genet 90:509-517 (2016)
DOI:10.1111/cge.12785

Reference

PMID:36084634 (OFD19)

Authors

Iturrate A, Rivera-Barahona A, Flores CL, Otaify GA, Elhossini R, Perez-Sanz ML, Nevado J, Tenorio-Castano J, Trivino JC, Garcia-Gonzalo FR, Piceci-Sparascio F, De Luca A, Martinez L, Kalayci T, Lapunzina P, Altunoglu U, Aglan M, Abdalla E, Ruiz-Perez VL

Title

Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.

Journal

Am J Hum Genet 109:1828-1849 (2022)
DOI:10.1016/j.ajhg.2022.08.009

Reference

PMID:37384395 (OFD20)

Authors

Bruel AL, Ganga AK, Noskova L, Valenzuela I, Martinovic J, Duffourd Y, Zikanova M, Majer F, Kmoch S, Mohler M, Sun J, Sweeney LK, Martinez-Gil N, Thauvin-Robinet C, Breslow DK

Title

Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.

Journal

Hum Mol Genet 32:2822-2831 (2023)
DOI:10.1093/hmg/ddad109

Reference

PMID:38158857 (OFD21)

Authors

Hannes L, Atzori M, Goldenberg A, Argente J, Attie-Bitach T, Amiel J, Attanasio C, Braslavsky DG, Bruel AL, Castanet M, Dubourg C, Jacobs A, Lyonnet S, Martinez-Mayer J, Perez Millan MI, Pezzella N, Pelgrims E, Aerden M, Bauters M, Rochtus A, Scaglia P, Swillen A, Sifrim A, Tammaro R, Mau-Them FT, Odent S, Thauvin-Robinet C, Franco B, Breckpot J

Title

Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.

Journal

Genet Med 26:101059 (2024)
DOI:10.1016/j.gim.2023.101059

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