Omim /Ref. Name

Download 327.46 Kb.
Date conversion01.02.2017
Size327.46 Kb.
1   2   3




Precocious puberty, progressive IQ deterioration (mild to moderate)




Coarse facial features, epilepsy, progressive joint contractures





Macrocephaly, macroorchidism, midface hypoplasia, triangular face





A/synphalangism of hands and feet, hearing loss, verrucosis and hypertrichosis, immunodeficiency




Microcephaly, microphthalmia, congenital cataract, peculiar face, microgenitalism






Microcephaly, variably short stature





Hypotonia, areflexia, tapered fingers, arches increased, genu valgum




dominant, lethal in males

microcephaly, short stature, hypotelorism, small ears, short philtrum, small mandible, small hands and feet, and mild cognitive impairment




Short stature, prominent forehead, hypertelorism, broad nasal tip, anteverted nares




Acromegaly, CNS anomalies, macroorchidism






missense mutation

Macrocephaly and heterozygote expression, previously linked to Xp21.2-q13



either missense or duplication

nonspecific MR (including MRX17 and MRX31: in both cases there was a microduplication involving the HUWE1 and the HADH2 genes)



van Esch


not ARX or IL1RAPL1

Short stature, microcephaly, hypogonadism




may be BFLS? See %309585

Hypogonadism, gynecomastia, short stature, obesity




Short stature, obesity, hypogonadism

References for Table S1:
[1] Guerrini R, Shanahan JL, Carrozzo R, Bonanni P, Higgs DR, Gibbons RJ (2000) A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy. Ann Neurol 47:117-121

[2] Yntema HG, Poppelaars FA, Derksen E, Oudakker AR, van Roosmalen T, Jacobs A, Obbema H, Brunner HG, Hamel BC, van Bokhoven H (2002) Expanding phenotype of XNP mutations: mild to moderate mental retardation. Am J Med Genet 110:243-247

[3] Donnelly AJ, Choo KH, Kozman HM, Gedeon AK, Danks DM, Mulley JC (1994) Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22. Am J Med Genet 51:581-585
[4] Unger S, Mainberger A, Spitz C, Bahr A, Zeschnigk C, Zabel B, Superti-Furga A, Morris-Rosendahl DJ (2007) Filamin A mutation is one cause of FG syndrome. Am J Med Genet A 143:1876-1879
[5] Piluso G, D'Amico F, Saccone V, Rotundo L, Nigro V (2007) A missense mutation in CASK gene causes FG syndrome in an Italian FGS family. Abstract P58 in the Proceedings of the 13th International Workshop on Fragile X and X-linked mental retardation, Venice (Italy), 3-6 October 2007
[6] Tarpey PS, Raymond FL, Nguyen LS, Rodriguez J, Hackett A, Vandeleur L, Smith R, Shoubridge C, Edkins S, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Hills K, Jones D, Mironenko T, Perry J, Varian J, West S, Widaa S, Teague J, Dicks E, Butler A, Menzies A, Richardson D, Jenkinson A, Shepherd R, Raine K, Moon J, Luo Y, Parnau J, Bhat SS, Gardner A, Corbett M, Brooks D, Thomas P, Parkinson-Lawrence E, Porteous ME, Warner JP, Sanderson T, Pearson P, Simensen RJ, Skinner C, Hoganson G, Superneau D, Wooster R, Bobrow M, Turner G, Stevenson RE, Schwartz CE, Futreal PA, Srivastava AK, Stratton MR, Gécz J (2007) Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nat Genet 39:1127-1133.
[7] Grzeschik KH, Bornholdt D, Oeffner F, Konig A, del Carmen Boente M, Enders H, Fritz B, Hertl M, Grasshoff U, Hofling K, Oji V, Paradisi

M, Schuchardt C, Szalai Z, Tadini G, Traupe H, Happle R (2007) Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal

dermal hypoplasia. Nat Genet 39:833-835
[8] Wang X, Reid Sutton V, Omar Peraza-Llanes J, Yu Z, Rosetta R, Kou YC, Eble TN, Patel A, Thaller C, Fang P, Van den Veyver IB (2007)

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet 39:836-838.

[9] Jun L, Frints S, Duhamel H, Herold A, Abad-Rodrigues J, Dotti C, Izaurralde E, Marynen P, Froyen G (2001) NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation. Curr Biol 11:1381-1391.
[10] Frints SG, Jun L, Fryns JP, Devriendt K, Teulingkx R, Van den Berghe L, De Vos B, Borghgraef M, Chelly J, Des Portes V, Van Bokhoven H, Hamel B, Ropers HH, Kalscheuer V, Raynaud M, Moraine C, Marynen P, Froyen G (2003) Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene. Am J Med Genet A 119:367-374.
[11] Porteous MEM, Johnson H, Burn J, Curtis A, Lindsay S, Bhattacharya SS, Goodship JA (1992) A new mental retardation syndrome mapping

to the pericentrometric region of the X chromosome. Am J Hum Genet 51(4) Suppl:Abstract 410. Paper presented at the Annual Meeting of the

American Society of Human Genetics, San Francisco, November 9-13
[12] Strain L, Wright AF, Bonthron DT (1997) Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22. J Med Genet 34:535-540
[13] Saillour Y, Zanni G, Des Portes V, Heron D, Guibaud L, Iba-Zizen MT, Pedespan JL, Poirier K, Castelnau L, Julien C, Franconnet C, Bonthron D, Porteous ME, Chelly J, Bienvenu T (2007) Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia. J Med Genet 44:739-744.
[14] Carpenter NJ, Givens H, Randell L, Lutz R, Miles JH (2000) Clinical characterization and gene mapping of a family with X-linked mental

retardation, facial dysmorphism, congenital hip dislocation and skewed pattern of X-inactivation. Am J Hum Genet 67(4) Suppl.2:Abstract

1743. Paper presented at the Annual Meeting of the American Society of Human Genetics, Philadelphia, October 3-7
[15] Kroes HY, Nievelstein RJ, Barth PG, Nikkels PG, Bergmann C, Gooskens RH, Visser G, van Amstel HK, Beemer FA (2005) Cerebral,

cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features

overlapping with Joubert syndrome. Am J Med Genet A 135:297-301
[16] Chassaing N, Siani V, Carles D, Delezoide AL, Alberti EM, Battin J, Chateil JF, Gilbert-Dussardier B, Coupry I, Arveiler B, Saura R,

Lacombe D (2005) X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.

Am J Med Genet A 136:307-312
[17] Chudley AE, Tackels DC, Lubs HA, Arena JF, Stoeber WP, Kovnats S, Stevenson RE, Schwartz CE (1999) X-linked mental retardation

syndrome with seizures, hypogammaglobulinemia, and progressive gait disturbance is regionally mapped between Xq21.33 and Xq23. Am J

Med Genet 85:255-262
[18] Cilliers DD, Parveen R, Clayton P, Cairns SA, Clarke S, Shalet SM, Black GC, Newman WG, Clayton-Smith J (2007) A new X-linked mental

retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26. Eur J Med Genet

[19] Hall BD, Robl JM (1999) New X-linked MR/MCA syndrome associated with cleft lip/palate, upslanted/short palpebral fissures, high nasal

bridge, prominent nasal tip, inguinal hernia and minor digital defects. Am J Hum Genet 65 Suppl: Abstract 819. Paper presented at the Annual

Meeting of the American Society of Human Genetics, San Francisco, October 19-23
[20] Hockey A (1986) X-linked intellectual handicap and precocious puberty with obesity in carrier females. Am J Med Genet 23:127-137
[21] Homfray T, Holland T, Patton M (1995) A new X-linked mental retardation syndrome. Clin Dysmorphol 4:289-293
[22] Johnson JP, Nelson R, Schwartz CE (1998) A family with mental retardation, variable macrocephaly and macro-orchidism, and linkage to

Xq12-q21. J Med Genet 35:1026-1030

[23] Oosterwijk JC, Wischmeijer A, Losekoot M, Haraldson A, Theunissen G, van Gelderen I (1999) A new X-linked mental retarda-tion syndrome

with distal limb defects, hearing impairment, verrucosis and immunodeficiency. Am J Hum Genet 65 Suppl: Abstract 1898. Paper presented at

the Annual Meeting of the American Society of Human Genetics, San Francisco, October 19-23
[24] Seemanova E, Lesny I (1996) X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency,

growth retardation, spasticity: possible new syndrome. Am J Med Genet 66:179-183

[25] Shrimpton AE, Daly KM, Hoo JJ (1999) Mapping of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short

stature to Xq12-q21.31. Am J Med Genet 84:293-299

[26] Shrimpton AE, Braddock BR, Hoo JJ (2000) Narrowing the map of a gene (MRXS9) for X-linked mental retardation, microcephaly, and

variably short stature at Xq12-q21.31. Am J Med Genet 92:155-156

[27] Stevenson RE, Hane B, Arena JF, May M, Lawrence L, Lubs HA, Schwartz CE (1997) Arch fingerprints, hypotonia, and areflexia associated

with X linked mental retardation. J Med Genet 34:465-469

[28] Stevenson RE, Brasington CK, Skinner C, Simensen RJ, Spence JE, Kesler S, Reiss AL, Schwartz CE (2007) Craniofacioskeletal syndrome: an X-linked dominant disorder with early lethality in males. Am J Med Genet A 143:2321-2329.
[29] Stoll C, Geraudel A, Chauvin A (1991) New X-linked syndrome of mental retardation, short stature, and hypertelorism. Am J Med Genet


[30] Tariverdian G, Froster-Iskenius U, Deuschl G, Wolff G (1991) Mental retardation, acromegalic face, and megalotestes in two half-brothers: a

specific form of X-linked mental retardation without fra(X)(q)? Am J Med Genet 38:208-211

[31] Turner G, Gedeon A, Mulley J (1994) X-linked mental retardation with heterozygous expression and macrocephaly: pericentromeric gene

localization. Am J Med Genet 51:575-580

[32] Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, Bauters M, Govaerts K, Vandeleur L, Van Esch H, Chelly J, Sanlaville D, van Bokhoven H, Ropers HH, Laumonnier F, Ranieri E, Schwartz CE, Abidi F, Tarpey PS, Futreal1 PA, Whibley A, Raymond FL, Stratton MR, Fryns JP, Scott R, Peippo M, Sipponen M, Partington M, Mowat D, Field M, Hackett A, Marynen P, Turner G, Gécz J: Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet, in press.
[33] Van Esch H, Zanni G, Holvoet M, Borghgraef M, Chelly J, Fryns JP, Devriendt K (2005) X-linked mental retardation, short stature,

microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family. Eur J Med Genet 48:145-152

[34] Vasquez SB, Hurst DL, Sotos JF (1979) X-linked hypogonadism, gynecomastia, mental retardation, short stature, and obesity--a new

syndrome. J Pediatr 94:56-60

[35] Young ID, Hughes HE (1982) Sex-linked mental retardation, short stature, obesity and hypogonadism: report of a family. J Ment Defic Res

1   2   3

The database is protected by copyright © 2016
send message

    Main page