Affected individuals commonly suffer from photophobia, nystagmus and achromatopsia. Other symptoms affecting vision may include night vision difficulties;[2] optic disc pallor; narrow vessels; macular atrophy with pigment mottling; peripheral deep white dot deposits or retinal pigment epithelium (RPE) alterations in the inferonasal retina; decreased foveal and retinal thickness; attenuation of retinal lamination; hyperreflectivity in the choroids (due to RPE and choriocapillaris atrophy);[3] impairment of color vision; and progressive loss of vision with advancing age.[4]
In line with ameleogenesis imperfecta, affected members may display teeth yellow-brown in colour, dysplastic, presenting numerous caries;[3] reduced enamel layer prone to posteruptive failure; and abnormality of morphology involving dentine.[4]
Geneticsedit
The Jalili syndrome is caused by different mutations all with a linkage at the achromatopsia locus 2q11 on the metal transporter gene, CNNM4. Sequence analysis of this gene within Jalili syndrome sufferers has identified homozygosity or compound heterozygosity for several different mutations in the CNNM4 gene.[5][6][7][8]
Managementedit
This section is empty. You can help by adding to it. (July 2017)
Epidemiologyedit
The distribution of Jalili syndrome sufferers is varied. Instances, beyond the Gaza strip patients who characterized the syndrome, include a two generation family from Kosovo who presented in the first few years of life with autosomal recessive cone-rod dystrophy and the hypoplastic/hypomineralized variant of amelogenesis imperfecta,[2] a sister and brother from Kosovo who presented at ages 14 and 7 respectively with dysplastic and discoloured decidual and permanent teeth,[3] and a five generation Lebanese family with two sisters and a male cousin presenting ocular and dental phenotypes akin to the Kosovan siblings.[3]
In 2009, new examinations of the original Palestinian and Kosovan families reported by Jalili and Smith in 1988 and Michaelides et al. in 2004, led to the discovery of five additional cases displayed across genetically unconnected families from varying ethnicities, leading to the proposal of the term “Jalili syndrome” by Parry et al.[4] A small cluster of eight individuals has been documented among the Amish in rural west-central Wisconsin. [9]
Referencesedit
^ abJalili, I K; Smith, N J (1988). "A progressive cone-rod dystrophy and amelogenesis imperfecta: A new syndrome". Journal of Medical Genetics. 25 (11): 738–40. doi:10.1136/jmg.25.11.738. PMC1051576. PMID 3236352.
^ abMichaelides, M; Bloch-Zupan, A; Holder, GE; Hunt, DM; Moore, AT (2004). "An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta". Journal of Medical Genetics. 41 (6): 468–73. doi:10.1136/jmg.2003.015792. PMC1735797. PMID 15173235.
^ abcdPolok, Bozena; Escher, Pascal; Ambresin, Aude; Chouery, Eliane; Bolay, Sylvain; Meunier, Isabelle; Nan, Francis; Hamel, Christian; Munier, Francis L. (2009). "Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta". The American Journal of Human Genetics. 84 (2): 259–65. doi:10.1016/j.ajhg.2009.01.006. PMC2668018. PMID 19200527.
^ abcParry, David A.; Mighell, Alan J.; El-Sayed, Walid; Shore, Roger C.; Jalili, Ismail K.; Dollfus, Hélène; Bloch-Zupan, Agnes; Carlos, Roman; Carr, Ian M. (2009). "Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta". The American Journal of Human Genetics. 84 (2): 266–73. doi:10.1016/j.ajhg.2009.01.009. PMC2668026. PMID 19200525.
^"In a Wisconsin village, the doctor makes house calls — and sees the rarest diseases on Earth". USA Today. 29 November 2019.
Further readingedit
Downey, Louise M; Keen, T Jeffrey; Jalili, Ismail K; McHale, John; Aldred, Michael J; Robertson, Steven P; Mighell, Alan; Fayle, Steven; Wissinger, Bernd (2002). "Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate". European Journal of Human Genetics. 10 (12): 865–9. doi:10.1038/sj.ejhg.5200884. PMID 12461695.
Jalili, I K; Smith, N J (1988). "A progressive cone-rod dystrophy and amelogenesis imperfecta: A new syndrome". Journal of Medical Genetics. 25 (11): 738–40. doi:10.1136/jmg.25.11.738. PMC1051576. PMID 3236352.
Michaelides, M; Bloch-Zupan, A; Holder, GE; Hunt, DM; Moore, AT (2004). "An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta". Journal of Medical Genetics. 41 (6): 468–73. doi:10.1136/jmg.2003.015792. PMC1735797. PMID 15173235.
Parry, David A.; Mighell, Alan J.; El-Sayed, Walid; Shore, Roger C.; Jalili, Ismail K.; Dollfus, Hélène; Bloch-Zupan, Agnes; Carlos, Roman; Carr, Ian M. (2009). "Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta". The American Journal of Human Genetics. 84 (2): 266–73. doi:10.1016/j.ajhg.2009.01.009. PMC2668026. PMID 19200525.
Polok, Bozena; Escher, Pascal; Ambresin, Aude; Chouery, Eliane; Bolay, Sylvain; Meunier, Isabelle; Nan, Francis; Hamel, Christian; Munier, Francis L. (2009). "Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta". The American Journal of Human Genetics. 84 (2): 259–65. doi:10.1016/j.ajhg.2009.01.006. PMC2668018. PMID 19200527.
Jalili, I.K. Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs. Eye (2010) 24, 1659–1668; doi:10.1038/eye.2010.103.
External linksedit
OMIM Database (Jalili Syndrome)
November 20, 2023
jalili, syndrome, genetic, disorder, characterized, combination, cone, dystrophy, retina, amelogenesis, imperfecta, characterized, 1988, jalili, smith, following, examination, members, inbred, arab, family, living, within, gaza, strip, other, namescone, dystro. Jalili syndrome is a genetic disorder characterized by the combination of cone rod dystrophy of the retina and amelogenesis imperfecta 1 It was characterized in 1988 by Dr I K Jalili and Dr N J D Smith following the examination of 29 members of an inbred Arab family living within the Gaza Strip 1 Jalili syndromeOther namesCone rod dystrophy amelogenesis imperfecta syndromeJalili syndrome is inherited via an autosomal recessive manner Contents 1 Presentation 2 Genetics 3 Management 4 Epidemiology 5 References 6 Further reading 7 External linksPresentation editAffected individuals commonly suffer from photophobia nystagmus and achromatopsia Other symptoms affecting vision may include night vision difficulties 2 optic disc pallor narrow vessels macular atrophy with pigment mottling peripheral deep white dot deposits or retinal pigment epithelium RPE alterations in the inferonasal retina decreased foveal and retinal thickness attenuation of retinal lamination hyperreflectivity in the choroids due to RPE and choriocapillaris atrophy 3 impairment of color vision and progressive loss of vision with advancing age 4 In line with ameleogenesis imperfecta affected members may display teeth yellow brown in colour dysplastic presenting numerous caries 3 reduced enamel layer prone to posteruptive failure and abnormality of morphology involving dentine 4 Genetics editThe Jalili syndrome is caused by different mutations all with a linkage at the achromatopsia locus 2q11 on the metal transporter gene CNNM4 Sequence analysis of this gene within Jalili syndrome sufferers has identified homozygosity or compound heterozygosity for several different mutations in the CNNM4 gene 5 6 7 8 Management editThis section is empty You can help by adding to it July 2017 Epidemiology editThe distribution of Jalili syndrome sufferers is varied Instances beyond the Gaza strip patients who characterized the syndrome include a two generation family from Kosovo who presented in the first few years of life with autosomal recessive cone rod dystrophy and the hypoplastic hypomineralized variant of amelogenesis imperfecta 2 a sister and brother from Kosovo who presented at ages 14 and 7 respectively with dysplastic and discoloured decidual and permanent teeth 3 and a five generation Lebanese family with two sisters and a male cousin presenting ocular and dental phenotypes akin to the Kosovan siblings 3 In 2009 new examinations of the original Palestinian and Kosovan families reported by Jalili and Smith in 1988 and Michaelides et al in 2004 led to the discovery of five additional cases displayed across genetically unconnected families from varying ethnicities leading to the proposal of the term Jalili syndrome by Parry et al 4 A small cluster of eight individuals has been documented among the Amish in rural west central Wisconsin 9 References edit a b Jalili I K Smith N J 1988 A progressive cone rod dystrophy and amelogenesis imperfecta A new syndrome Journal of Medical Genetics 25 11 738 40 doi 10 1136 jmg 25 11 738 PMC 1051576 PMID 3236352 a b Michaelides M Bloch Zupan A Holder GE Hunt DM Moore AT 2004 An autosomal recessive cone rod dystrophy associated with amelogenesis imperfecta Journal of Medical Genetics 41 6 468 73 doi 10 1136 jmg 2003 015792 PMC 1735797 PMID 15173235 a b c d Polok Bozena Escher Pascal Ambresin Aude Chouery Eliane Bolay Sylvain Meunier Isabelle Nan Francis Hamel Christian Munier Francis L 2009 Mutations in CNNM4 Cause Recessive Cone Rod Dystrophy with Amelogenesis Imperfecta The American Journal of Human Genetics 84 2 259 65 doi 10 1016 j ajhg 2009 01 006 PMC 2668018 PMID 19200527 a b c Parry David A Mighell Alan J El Sayed Walid Shore Roger C Jalili Ismail K Dollfus Helene Bloch Zupan Agnes Carlos Roman Carr Ian M 2009 Mutations in CNNM4 Cause Jalili Syndrome Consisting of Autosomal Recessive Cone Rod Dystrophy and Amelogenesis Imperfecta The American Journal of Human Genetics 84 2 266 73 doi 10 1016 j ajhg 2009 01 009 PMC 2668026 PMID 19200525 OMIM Entry 607805 CYCLIN M4 CNNM4 OMIM Entry 607805 CYCLIN M4 CNNM4 OMIM Entry 607805 CYCLIN M4 CNNM4 OMIM Entry 607805 CYCLIN M4 CNNM4 In a Wisconsin village the doctor makes house calls and sees the rarest diseases on Earth USA Today 29 November 2019 Further reading editDowney Louise M Keen T Jeffrey Jalili Ismail K McHale John Aldred Michael J Robertson Steven P Mighell Alan Fayle Steven Wissinger Bernd 2002 Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone rod dystrophy cosegregate European Journal of Human Genetics 10 12 865 9 doi 10 1038 sj ejhg 5200884 PMID 12461695 Jalili I K Smith N J 1988 A progressive cone rod dystrophy and amelogenesis imperfecta A new syndrome Journal of Medical Genetics 25 11 738 40 doi 10 1136 jmg 25 11 738 PMC 1051576 PMID 3236352 Michaelides M Bloch Zupan A Holder GE Hunt DM Moore AT 2004 An autosomal recessive cone rod dystrophy associated with amelogenesis imperfecta Journal of Medical Genetics 41 6 468 73 doi 10 1136 jmg 2003 015792 PMC 1735797 PMID 15173235 Parry David A Mighell Alan J El Sayed Walid Shore Roger C Jalili Ismail K Dollfus Helene Bloch Zupan Agnes Carlos Roman Carr Ian M 2009 Mutations in CNNM4 Cause Jalili Syndrome Consisting of Autosomal Recessive Cone Rod Dystrophy and Amelogenesis Imperfecta The American Journal of Human Genetics 84 2 266 73 doi 10 1016 j ajhg 2009 01 009 PMC 2668026 PMID 19200525 Polok Bozena Escher Pascal Ambresin Aude Chouery Eliane Bolay Sylvain Meunier Isabelle Nan Francis Hamel Christian Munier Francis L 2009 Mutations in CNNM4 Cause Recessive Cone Rod Dystrophy with Amelogenesis Imperfecta The American Journal of Human Genetics 84 2 259 65 doi 10 1016 j ajhg 2009 01 006 PMC 2668018 PMID 19200527 Jalili I K Cone rod dystrophy and amelogenesis imperfecta Jalili syndrome phenotypes and environs Eye 2010 24 1659 1668 doi 10 1038 eye 2010 103 External links editOMIM Database Jalili Syndrome Retrieved from https en wikipedia org w index php title Jalili syndrome amp oldid 1160061532, wikipedia, wiki, book, books, library,
