Cat-Map Chromosome X shiels.lab 10/22/2011
Locus Gene Exon/ DNA Change Coding Change Inh* Origin Cataract Phenotype Other Phenotype Reference Mouse Locus/Mutant Mouse Reference
Intron
Xpter-q13.1 ? XL Female - cortical punctate/pulverulent, Cataract, ataxia, short-stature, mental Guo et al. 2006
posterior sub-capsular; Male - total retardation (CASM) syndrome
Xp22.3 HCCS XL Syndromic microphthalmia-7 (MCOPS7) X Hccs
Xp22.3 ARSE XL Chondrodysplasia punctata-1 X Arse
Xp22 AIC XL Aicardi syndrome
Xp22.13 NHS Ex1 c.115C>T p.Q39X XL India Cortical cunieform, sutural, coralliform, Microcornea Ramprasad, et al. 2005 X Nhs
blue dot, posterior subcapsular
Xp22.13 NHS Ex1 c.400delC p.R134VfsX62 XL Australia Dental anomalies Burdon, et al. 2003 IVS1ins487kb (Xcat ) Huang, et al. 2006
Xp22.13 NHS Ex1 c.400delC p.R134VfsX62 XL UK Dental anomalies Brooks, et al. 2004
Xp22.13 NHS Ex1 c.472C>T p.Q158X XL ? Female - Y-sutural, cortical wedge; Male - Microcornea, Dental/ear anomalies Coccia et al. 2009
Y-sutural, nuclear
Xp22.13 NHS IVS1 del4.8kb XL ? Female - Y-sutural; Male - dense nuclear Coccia et al. 2009
or mild posterior sutural (CXN)
Xp22.13 NHS Ex2 c.614delC p.P206fsX282 XL ? Male - congenital, dense Microphthalmia, Secondary glaucoma Coccia et al. 2009
Xp22.13 NHS IVS2 and IVS2 -3C>G + p.E240GfsX36 XL Australia Dental anomalies Burdon, et al. 2003
Ex3 c.718insG
Xp22.13 NHS Ex3 c.742C>T p.R248X XL Australia Female - sutural Microcornea, dental anomalies Sharma et al. 2008
Xp22.13 NHS Ex3 c.742C>T p.R248X XL UK Female - posterior Y-sutural; Male - dense Dental/ear anomalies Coccia et al. 2009
central
Xp22.13 NHS Ex3 c.742C>T p.R248X XL Canada Female - cataracts (age 20s) Microphthalmia, ptosis, secondary glaucoma, Coccia et al. 2009
dental/facial anomalies
Xp22.13 NHS Ex3 c.792delA p.P264fs XL Australia Female - posterior Y-sutural Mild microphthalmia, dental/ear anomalies Sharma et al. 2008
Xp22.13 NHS IVS3 c.853-2A>G Splice variant XL Netherlands Microphthalmia, dental/ear anomalies Florijn, et al. 2006
Xp22.13 NHS Ex5 c.1108C>T p.Q370X XL USA Microcornea, dental/ear anomalies Huang, et al. 2007
Xp22.13 NHS Ex5 c.1117C>T p.R373X XL Australia Dental anomalies Burdon, et al. 2003
Xp22.13 NHS Ex5 c.1117C>T p.R373X XL Netherlands Microphthalmia, dental anomalies Florijn, et al. 2006
Xp22.13 NHS Ex5 c.1117C>T p.R373X XL Australia Dental/ear anomalies Sharma et al. 2008
Xp22.13 NHS Ex6 c.2387insC p.A796AfsX36 XL Australia Fetal nucleus and posterior Y suture with Dental anomalies Burdon, et al. 2003
(p.S797FfsX35) variable zonular extensions into the
posterior cortex
Xp22.13 NHS Ex6 c.2550- p.K850fsX852 XL ? Male - bilateral congenital Dental/facial anomalies, developmental delay, Coccia et al. 2009
2553del4bp behavioral problems
Xp22.13 NHS Ex6 c.2601insG p.K868EfsX5 XL Netherlands Microphthalmia Florijn, et al. 2006
Xp22.13 NHS Ex6 c.2635C>T p.R879X XL Netherlands Microcornea, dental/ear anomalies Florijn, et al. 2006
Xp22.13 NHS Ex6 c.2635C>T p.R879X XL Belgium Dental/ear anomalies, mental retardation Sharma et al. 2008
Xp22.13 NHS Ex6 c.2687delA p.Q896RfsX10 XL UK Dental anomalies Brooks, et al. 2004
Xp22.13 NHS Ex6 c.3459delC p.A1153AfsX29 XL Australia Dental anomalies Burdon, et al. 2003
(p.L1154CfsX28)
Xp22.13 NHS Ex6 c.3596insA p.K1198fs XL Germany Female - nuclear, cone-shaped sutural Microcornea, microphthalmia, nystagmus, Sharma et al. 2008
strabismus, secondry glaucoma
Xp22.13 NHS Ex6 c.3624C>A p.C1208X XL USA Microcornea, dental/ear anomalies Huang, et al. 2007
Xp22.13 NHS Ex6 c.3738- p.C1246CfsX16 XL UK Dental anomalies Brooks, et al. 2004
3739delTG (p.A1247FfsX15)
Xp22.13 NHS EX6 3908del11bp p.I1302fs XL Israel Female - Y-sutural, Male - total High myopia, nystagmus, strabosmus, Sharma et al. 2008
microphthalmia, dental/craniofacial anomalies
Xp22.13 NHS Ex6 c.4129C>T p.Q1377X XL USA Microcornea, dental/ear anomalies Huang, et al. 2007
Xp22.13 NHS Ex8 Intragenic p.S1521fsX1531 XL ? Female - Posterior Y-sutural; Male - Dental/facial anomalies, developmental delay, Coccia et al. 2009
genomic re- cortical wedge, nuclear dot-like behavioral problems
arrangement
Xp22.13 NHS Ex1-8 Segmental XL Europe Female - mild fan-shaped, central, nuclear Congenital heart defects Coccia et al. 2009
duplication- (CXN)
triplication
(0.8Mb)
Xp22.13 NHS Ex2-8 0.9Mb deletion XL ? Male - bilateral congenital Microphthalmia, dental/facial anomalies, Coccia et al. 2009
3′ to Ex1 developmental delay, hypotonic
Xp22.13 NHS All 2.8Mb deletion XL Belgium Male - congenital nucleocortical Microphthalmia, microcornea, Van Esch et al. 2007
encompassing encephalopathy, tetralogy of Fallot
NHS
Xp22.13 NHS All (1-10) 0.92Mb XL Taiwan Male - congenital dental anomalies, facial dysmorphisms, Liao et al. 2011
deletion mental retardation
encompassing
NHS
Xp21.2- BCOR XL Syndromic microphthalmia-2 (MCOPS2) X Bcor
p11.4
Xp11.4 NDP XL Norrie disease X Ndp
Xp11.4- RP2 XL Retinitis pigmentosa-2 ?
p11.21
Xp11.23 PORCN XL Focal dermal hypoplasia X Porcn
Xp11.23 PQBP1 XL Renpenning syndrome X Pqbp1
Xp11.23- EBP XL Chondrodysplasia punctata-2 X Ebp
p11.22
Xq22 GLA XL Fabry disease X Gla
Xq22 COL4A6 XL Diffuse leiomyomatosis with Alport syndrome X Col4a6
Xq22 COL4A5 XL Alport syndrome X Col4A5
Xq24 ? ? ? ? XL Australia Lamellar, nuclear, sutural, white dots Dental anomalies Craig, et al. 2008
Xq24 LAMP2 Dannon disease (X-liked vacuolar X Lamp2
cardiomyopathy and myopathy)
Xq25-q26.1 OCRL XL Oculocerebrorenal syndrome of Lowe, Dent X Ocrl
disease
Xq28 ABCD1+ XL Contiguous ABCD1 DXS1357E deletion Corzo et al. 2002 X Abcd1
syndrome (CADDS)
Xq28 IKBKG XL Incontinentia pigmenti, Ectodermal dysplasia, X Ikbkg
Isolated immunodeficiency