Ismail K Jalili

FRCS, DO, FRCOphth


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CNNM4 Mutations and Jalili Syndrome: Publications and Statistics

  CNNM4 mutations, Jalili syndrome type, and statistics (including cases with unreported mutations) (as 1 November 2016)
  CNNM4 mutations  PDF
  Statistics on CNNM4 mutations, Jalili syndrome patients and families PDF
  References on CNNM4 mutations and Jalili syndrome  PDF
 
  Mutations and statistics per region  PDF
  List of CNNM4 mutations published as on 1, November 2016
  Year  Origin novel zygosity Mutation 1 / Mutation 2 CF & additional associations Reference (abbreviated) - See last column
  2009 Gaza  (Gaza A) novel homozygous c.599C>A;p.S200Y / ditto JS (CRD & AI) Jalili and Smith (1989) 1, Parry et al (2009) 2
  2009 Kosovo  novel homozygous c.1312dupC;p.L438ProfX9 / ditto JS (CRD & AI) plus: taurodontism of permanent molars3 Parry et al (2009) 2, Michaeladis et al 3, 
  2009 Kosovo  JS (CRD & AI) Polok et al (2009 - Family A)
  2009 Gaza (Gaza B) novel homozygous c.1813C>T;p.R605X / ditto JS (CRD & AI) Parry et al (2009) 2, Jalili (2010) 5
  2009 Turkey novel homozygous c.586T>C;p.S196P / ditto JS (CRD & AI) Parry et al (2009)2
  2009 Iran novel homozygous c.1-?_1403+?del / ditto JS (CRD & AI) Parry et al (2009)2
  2009 Guatemala novel compound heterozygous c.2149C>T;p.Gln717X /  c.62_145 del;L21HisfsX185 JS (CRD & AI) Parry et al (2009) 2
  2009 Scotland novel compound heterozygous c.971T>C;p.L324P / c.1690T>C;p.O564* JS (CRD & AI) Parry et al (2009) 2
  2009 Lebanon novel homozygous c.707G>A;p.R236Q / ditto JS (CRD & AI) Polok et al (2009) 4  Family B
  2009 Unreported novel homozygous c.971T>C;p.L324P / ditto JS (CRD & AI) Polok et al (2009) 4 - Family C
  2012 Kosovo known homozygous c.1312dupC;p.L438PfX9 / ditto;. ADDITIONAL: c.2033insC;p.Ile679AsnfsX21 (NF1) JS (CRD & AI) Zobor et al  (2012)  6
  2013 N. America novel homozygous c.1555C>T;p.R519* / ditto JS (CRD & AI) Doucette et al (2013) 7
  2013 Kosovo known homozygous c.1312dupC;p.L438Pfs9X / ditto JS (CRD & AI) Luder et al (2013) 8
  2013 Saudi Arabia novel homozygous c.1484C>T; p.T495Ile / ditto JS (CRD & AI) Abu-Safieh et al (2013) 9
  2013 Kosovo known homozygous c.1312dupC;p.L438Pfs*9 / ditto JS (CRD & AI) Gerth-Kahlert et al  (2013) 10
  2014 Algeria novel homozygous c.189del; Asp63Glufs*12 / ditto JS (CRD & AI) Coppieters et al (2014) 11
  2015 Algeria novel homozygous c.1495G>A; p.[V499M] / ditto JS (CRD & AI) Prasad et al (2015) 12
  2015 Saudi Arabia novel homozygous c.[1474G>T]; p. C492 / ditto JS (CRD & AI), mental deficiency Lopez Torres et al  (2015) (abstract) 13
  2015 China novel homozygous c.896_897insT; p.A300CfsX22 / ditto JS (CRD & AI) Wang H  et al (2015) 14
  2015 USA: Portland, Oregon novel   compound heterozygous c.1307delC, p.T436fs / c.C1690T, p.Q564X  JS (CRD & AI) Pennesi M et al (2015 ) 15
  2016 Kosovo novel  as compound heterozygous c.1312dupC;p.L438PfsX9 / c.694_722del;p.lle232ProfsX80 JS (CRD & AI) Kiessling F et al (2016) 16
  2016 Turkey novel   homozygous c.1781A>G (p.N594S) / ditto JS (CRD & AI) Topçu et al (2016) 17
  2016 Iran novel homozygous c.1091delG / ditto JS (CRD & AI) Rahimi-Aliabadi et al (2016) 18
  2017 Morocco novel homozygous c.1682-1G>C; p.Glu561Glyfs*5. / ditto JS (CRD & AI) Jaouad et al 22
               
  Mutations reported in a carrier status    
  2013 China novel Heterozygous, carrier c.47G>A;p.Arg16His  JS (CRD & AI) Huang Li et al (2013),19 carrier state
  Unreported mutations
  1989 Gaza singleton (Family Gaza C) n/a   n/a JS (CRD & AI) Jalili (2010) 5 - Gaza C
  2015 India n/a n/a n/a JS (CRD & AI) plus other ocular CNNM4 mutations: situs inversus, keratoconus, ectopia lentis, mild ptosis Purwar et al  20
  2016 Pakistan n/a n/a n/a JS (CRD & AI)  Malik et al 21
  Number of novel mutations 20    ** An existing novel mutation as a compound heterzygous   
  Homozygous mutations 17        
  * Number of reported Kosovan mutatons  6        
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For any query, please contact: dr@jalili.co.uk
Data updated 1 November 2016                
Statistics
CNNM4 mutations, Jalili syndrome type, and statistics (including cases with unreported mutations): statistics on sibships and patients.*
Origin Total Cases Reported Cases Examined Families Sibships M F Gender n/a JS Type Reference (abbreviated) - See last column
Gaza  (Gaza A) 31 29 1 18 17 14   A Jalili and Smith (1989) 1, Parry et al (2009) 2
Kosovo* 2 2 1 1 2 0   A Parry et al (2009) 2, Michaeladis et al 3 
Kosovo* 2 2 1 1 1 1   A Polok et al (2009) 4 (Family A) 
Gaza (Gaza B) 3 1 1 1 1 2   B Parry et al (2009) 2, Jalili IK (2010) 5
Turkey 2 1 1 1 2 0   B Parry et al (2009) 2
Iran 4 1 1 2 3 1   u/r Parry et al (2009) 2
Guatemala 5 5 1 1 5 0   u/r Parry et al (2009) 2
Scotland 1 1 1 1 1 0   B Parry et al (2009) 2
Lebanon 3 3 1 2 2 1   A Polok et al (2009) 4  Family B
Unreported 1 1 1 1 0 1   A Polok et al (2009) 4  Family C
Kosovo* 1 1 1 1 0 1   A Zobor et al  (2012) 6
N. America 4 1 1 1 1 3   A Doucette et al (2013) 7
Kosovo* 2 2 1 1 2 0   A Luder et al (2013) 8
Saudi Arabia 2 1 1 1     2 A Abu-Safieh et al (2013) 9
Kosovo* 2 2 1 1 0 2   A Gerth-Kahlert et al  (2013) 10
Algeria 3 3 1 1 2 1   A Coppieters et al (2014) 11
Algeria 2 1 1 1 - - 2 A Prasad et al (2015) 12
Saudi Arabia 2 1 1 1 2 0   A Lopez Torres et al  (2015) (abstract) 13
China 1 1 1 1     1 A Wang H  et al (2015) 14
USA: Portland, Oregon 1 1 1 1 1 0   A Pennesi M et al (2015 ) 15
Kosovo* 1 1 1 1 1 1   A Kiessling F et al (2016) 16
Turkey 3 3 1 1 0 3   B Topçu et al (2016) 17
Iran 24 4 1 14 12 12   A Rahimi-Aliabadi et al (2016) 18
Poland 3 3 1 1 3 0   ? Wawrocka A at al 23
                 
                   
                 
Mutations reported in carrier status                  
China (carrier)               - Huang et al (2012),19 carrier state
                 
                 
Unreported Mutaions                  
Gaza (Family Gaza C) 1 1 1 1 1 0   A Jalili (2010) 5 - Gaza C
India 4 1 4 10 5 5   A Purwar et al (2015)  20
Pakistan 1 1 1 1 1 0   A Malik et al  (2016) 21
                 
                 
                   
Total per column 108 71 29 67 62 48 5   including unreported mutations
Total per column with reported mutations 102 68 23 55 55 43 5    
Total per colomn with unreported mutations 6 3 6 12 7 5 0    
Kosovan mutations 10 10 6 6 6 5 0    
                 
Families with type 'A' (macular dystrophy)       20  
Families with type 'B' (macular dystrophy)       4  
Families with undocumented retinal phenotype       2  
                 
* Mutations published as at 1 November 2016.    
Abbrv. u/r: unreported                  
                 
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  Reference on sCNNM4 mutations, Jalili syndrome - References
 
1 Jalili IK, Smith NJD. A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome. J Med Genet. 1988;25:738-40.  PubMed Link
2 Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan A, Carlos R, Carr IM, Downey LM, Blain KM, Mansfield DC, Shahrabi M, Heidari, M, Aref P, Abbasi M, Michaelides M, Moore AT, Kirkham J, Inglehearn CF. Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis.  Am. J. Hum. Genet.2009; 84: 266-73.  PubMed Link
3 Michaelides M, Bloch-Zupan A, Holder GE, Hunt DM, Moore AT. An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta. J Med Genet. 2004;41(6):468-73. PubMed Link
4 Polok B, Escher P, Ambresin A, Chouery E, Bolay S, Meunier I, Nan F, Hamel C, Munier FL, Thilo B, Mégarbané A, Schorderet DF. Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. Am J Hum Genet. 2009; 84(2):259-65. PubMed Link
5 Jalili IK. Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs.  Eye 2010; 24, 1659-68. PubMed Link , Authors manuscript fully corrected htm / pdf
6 Zobor D, Kaufmann DH, Weckerle P, Sauer A, Wissinger B, Wilhelm H, Kohl S. Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1. Ophthalmic Genet. 2012;33(1):34-8.  PubMed Link
7 Doucette L, Green J, Black C, Schwartzentruber J, Johnson GJ, Galutira D, Young TL. Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America. Ophthalmic Genet. 2013;34(3):119-29. PubMed Link
8 Luder HU, Gerth-Kahlert C, Ostertag-Benzinger S, Schorderet DF. Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene. PLoS One. 2013;23;8(10):e78529. PubMed Link
9 Abu-Safieh L, Alrashed M, Anazi S, Alkuraya H, Khan AO, Al-Owain M, Al-Zahrani J, Al-Abdi L, Hashem M, Al-Tarimi S, Sebai MA, Shamia A, Ray-Zack MD, Nassan M, Al-Hassnan ZN, Rahbeeni Z, Waheeb S, Alkharashi A, Abboud E, Al-Hazzaa SA, Alkuraya FS. Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. 2013;23(2):236-47. PubMed Link
10 Gerth-Kahlert C, Seebauer B, Dold S, Hanson JV, Wildberger H, Spörri A, van Waes H, Berger W. Intra-familial phenotype variability in patients with Jalili syndrome. Eye (Lond). 2015;29(5):712-6. PubMed Link
11 Coppieters F, Van Schil K, Bauwens M, Verdin H, De Jaegher A, Syx D, Sante T, Lefever S, Abdelmoula NB, Depasse F, Casteels, de Ravel T, Meire F, Leroy BP, De Baere E.Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy. Genet Med. 2014;16(9):671-80. PubMed Link
12 Prasad MK, Geoffroy V, Vicaire S, Jost B, Dumas M, Le Gras S, et al. A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.J Med Genet.  2016;53(2):98-110. PubMed Link
13 Lopez Torres LT, Schorderet D, Valmaggia C, Todorova M. A novel mutation in CNNM4 (G492C) associated with Jalili Syndrome. Acta Ophthalmologica, 2015;93(S255). doi: 10.1111/j.1755-3768.2015.0606. PubMed Link
14 Wang H Wang X2, Zou X, Xu S, Li H, Soens ZT, Wang K, Li Y, Dong F, Chen R, Sui R.Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. Invest Ophthalmol Vis Sci. 2015;56(6):3642-55. PubMed Link
15 Pennesi M, Thomas A, Zhongqi GE, Che R. Meeting of the International Society for Genetic Eye Diseases & Retinoblastoma ISGEDR Halifax, Nova Scotia, Canada August 6‐8, 2015.  PubMed Link
16 Kiessling F, Mitter D, Langmann T, Müller D. Tegetmeyer H. Novel Deletion in the CNNM4 Gene in Siblings with Jalili Syndrome.Kiessling et al. Int J Ophthalmol Clin Res 2016, 3(1):046  Link
17 Topçu V, Alp MY, Alp CK, Bakır A, Geylan D, Yılmazoğlu MÖ. A new familial case of Jalili syndrome caused by a novel mutation in CNNM4. Ophthalmic Genet. 2016;12:1-6.  PubMed Link
18 Rahimi-Aliabadi S , Daftarian N, Ahmadieh H, Emamalizadeh B, Jamshidi J, Tafakhori A, et al. A Novel Mutation and Variable Phenotypic Expression in a Large Consanguineous Pedigree with Jalili Syndrome: Eye (Lond). 2016;30, 1424–32. PubMed Link
19 Huang Li, Xiao X, Li S, Jia X, Wang P, Guo X, Zhang Q. CRX variants in cone-rod dystrophy and mutation overview. Biochem Biophys Res Commun. 2012;426(4):498-503. PubMed Link
20 Purwar P, Sareen S, Bhartiya K, Sayed Inayatullah SR, Bansal M, Chahal V, Gupta SK, Dixit J, Sheel V, Rai P. Jalili syndrome presenting with situs inversus totalis and keratoconus: the first case  in Indian subcontinent. Oral Surg Oral Med Oral Pathol Oral Radiol. 2015;120(5):e210-8. PubMed Link
21 Malik TG, Khalil M, Shah SA, Shafiq  MM. Jalili Syndrome (case report). Pak J Ophthalmol 2016,32(1):56-59. PubMed Link
22 Jaouad CI, Lyahyai J, Guaoua S, El Alloussi M, Zrhidri A, Doubaj Y, Boulanouar A, Sefiani A. Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome. Eur J Med Genet.  2017;60(5):239-244. PubMed Link
23

Wawrocka AWalczak-Sztulpa JBadura-Stronka MOwecki MKopczynski PMrukwa-Kominek ESkorczyk-Werner AGasperowicz PPloski RKrawczynski MR. Co-occurrence of Jalili syndrome and muscular overgrowth. Am J Med Genet A. 2017;173(8):2280-2283.  PubMed Link

 
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  Ref: www.jalili.co.uk/cnnm4/cnnm4_muts&stats.htm

Ismail K Jalili 2000-2017