science

Jalili syndrome

Jalili syndrome is a science topic covered in the lgStudy science library. This page brings together a partial reference excerpt, illustrations, worked examples, real-world applications and a short study plan, so you can understand Jalili syndrome rather than just read about it. In short: Jalili syndrome is a genetic disorder characterized by the combination of cone-rod dystrophy of the retina and amelogenesis imperfecta. It was characterized in 1988 by Dr.

Key takeaways

Jalili syndrome belongs to science; place it in that map before memorising details.
Learn the definition first, then one example that makes the definition concrete.
Connect Jalili syndrome to a quantity you can measure, compute or draw — that is where exam questions come from.
Reproduce the core statement of Jalili syndrome from memory before moving on to harder problems.

Reference excerpt

Jalili syndrome is a genetic disorder characterized by the combination of cone-rod dystrophy of the retina and amelogenesis imperfecta. 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.

Presentation Affected individuals commonly suffer from photophobia, nystagmus and achromatopsia. Other symptoms affecting vision may include night vision difficulties; 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); impairment of color vision; and progressive loss of vision with advancing age. In line with ameleogenesis imperfecta, affected members may display teeth yellow-brown in colour, dysplastic, presenting numerous caries; reduced enamel layer prone to post-eruptive failure; and abnormality of morphology involving dentine.

Genetics 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.

Management

Epidemiology 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, a sister and brother from Kosovo who presented at ages 14 and 7 respectively with dysplastic and discoloured decidual and permanent teeth, and a five generation Lebanese family with two sisters and a male cousin presenting ocular and dental phenotypes akin to the Kosovan siblings. 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. A small cluster of eight individuals has been documented among the Amish in rural west-central Wisconsin.

References

Further reading 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. 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, 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. 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

OMIM Database (Jalili Syndrome)

Illustrations

Worked examples

Example 1 — a first encounter with Jalili syndrome

Start with the simplest possible case. Write down what Jalili syndrome claims or describes in one sentence, then invent the smallest concrete situation in which that sentence is true. In science, the smallest case is usually a single object, a single equation or a single measurement. Check that every symbol or term in your sentence has a meaning in that case.

Example 2 — changing one variable

Take the situation from Example 1 and change exactly one quantity: double it, halve it, or set it to zero. Predict what should happen to Jalili syndrome before you calculate. Comparing your prediction with the result is the fastest way to find out whether you understand the idea or only the words.

Example 3 — an exam-style question

Typical questions about Jalili syndrome ask you to (a) state it precisely, (b) apply it to given data, and (c) explain a limitation. Practise writing all three answers in under five minutes; the third part is what separates a full-mark answer from an average one.

Applications of Jalili syndrome

In research: Jalili syndrome appears in science research whenever the underlying quantities have to be modelled precisely. Papers usually cite it as a starting assumption and then explore where it breaks down.
In technology and industry: Engineering practice reuses Jalili syndrome in design rules, simulations and safety margins. Knowing the idea lets you read a specification sheet and understand why the numbers look the way they do.
In the classroom: Jalili syndrome is common in secondary-school and first-year university syllabi. It links to neighbouring topics Autosomal recessive disorders, Rare syndromes, Syndromes affecting the retina, so understanding it makes those chapters shorter.
In everyday life: Look for Jalili syndrome outside the textbook — in sport, cooking, traffic, electronics or the sky above you. An example you found yourself is remembered far longer than one you were given.

Ask Teacher Smith questions about this articleOpens your AI tutor with a question about “Jalili syndrome” →

Affiliate

Preply — study more efficiently by working with a personal tutor. 50% off.

How to study Jalili syndrome in 20 minutes

Read the reference excerpt below once, without taking notes.
Close the page and write down what Jalili syndrome means in your own words.
Compare your version with the excerpt and mark what you missed.
Work through the three examples above with pen and paper.
Explain Jalili syndrome out loud to somebody else — or to Teacher Smith in the lgStudy chat.

Frequently asked questions

What is Jalili syndrome in simple terms?

Jalili syndrome is a genetic disorder characterized by the combination of cone-rod dystrophy of the retina and amelogenesis imperfecta. It was characterized in 1988 by Dr.

Why does Jalili syndrome matter?

Because it connects several science ideas at once: it gives you a definition you can apply, a quantity you can calculate, and a way to check whether a result is plausible.

How should I study Jalili syndrome?

Read the excerpt, restate it from memory, then work through the examples and applications listed on this page. The five-step study plan above takes about twenty minutes.

What does this page cover?

It gives you a compact reference excerpt plus original lgStudy explanations, examples, applications and study material on Jalili syndrome.