CEDNIK Syndrome, a Rare Neuro-Cutaneous Disorder in an Iranian Patient: Case Report and Review of Specific Neuro-Ichthyotic Syndromes
-
Farah Ashrafzadeh
,
Mahla Esmaeilzadeh
,
Javad Mohammadi Asl
,
Narges Hashemi
,
Shima Imannezhad
,
Nazanin Saeedi Zand
,
Hanieh Sadat Mirzadeh
Abstract
Cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK) syndrome is an autosomal recessive neuro-cutaneous disorder characterized by a collection of clinical manifestations, including microcephaly, cerebral dysgenesis, palmoplantar keratoderma, facial dysmorphism, and ichthyosis. The etiology of this condition has been proved to be a homozygous mutation in the SNAP29 gene, which has an essential role in dermatological and neurological manifestations of this syndrome. In this report, we present the first documented Iranian patient with CEDNIK syndrome. So far, only 14 cases of this condition have been reported globally.
1. Steegmaier M, Yang B, Yoo J-S, Huang B, Shen M, Yu S, et al. Three novel proteins of the syntaxin/SNAP-25 family. Journal of Biological Chemistry. 1998; 273(51):34171-9.
2. Pan P-Y, Cai Q, Lin L, Lu P-H, Duan S, Sheng Z-H. SNAP-29-mediated modulation of synaptic transmission in cultured hippocampal neurons. Journal of Biological Chemistry. 2005; 280(27):25769-79.
3. Rapaport D, Lugassy Y, Sprecher E, Horowitz M. Loss of SNAP29 impairs endocytic recycling and cell motility. PloS one. 2010; 5(3):e9759.
4. Sprecher E, Ishida-Yamamoto A, Mizrahi-Koren M, Rapaport D, Goldsher D, Indelman M, et al. A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. The American Journal of Human Genetics. 2005; 77(2):242-51.
5. West Greenlee M, Finley S, Wilson M, Jacobson C, Sakaguchi D. Transient, high levels of SNAP‐25 expression in cholinergic amacrine cells during postnatal development of the mammalian retina. Journal of Comparative Neurology. 1998; 394(3):374-85.
6. Fuchs‐Telem D, Stewart H, Rapaport D, Nousbeck J, Gat A, Gini M, et al. CEDNIK syndrome results from loss‐of‐function mutations in SNAP29. British Journal of Dermatology. 2011; 164(3):610-6.
7. Ben-Salem S, Nara S, Al-Shamsi AM, Valle D, Ali BR, Al-Gazali L. A new Arab family with CEDNIK syndrome suggests a possible founder effect for the c. 223delG mutation. The Journal of dermatology. 2015; 42(8):821.
8. Hsu T, Coughlin CC, Monaghan KG, Fiala E, McKinstry RC, Paciorkowski AR, et al. CEDNIK: phenotypic and molecular characterization of an additional patient and review of the literature. Child Neurology Open. 2017; 4:2329048X17733214.
9. Poojary S, Shah KS, Bhalala KB, Hegde AU. CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene. Pediatric dermatology. 2019; 36(3):372-6.
10. Tiwana H, Raymond G, Kumar A. CEDNIK syndrome, a rare neuro-cutaneous disorder (P1.6-050). Neurology. 2019; 92(15 Supplement):P1.6-050.
11. McDonald-McGinn DM, Fahiminiya S, Revil T, Nowakowska BA, Suhl J, Bailey A, et al. Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11. 2DS. Journal of medical genetics. 2013; 50(2):80-90.
12. Rizzo WB, Jenkens SM, Boucher P, editors. Recognition and diagnosis of neuro-ichthyotic syndromes. Semin Neurol 2012;32:75-84.
2. Pan P-Y, Cai Q, Lin L, Lu P-H, Duan S, Sheng Z-H. SNAP-29-mediated modulation of synaptic transmission in cultured hippocampal neurons. Journal of Biological Chemistry. 2005; 280(27):25769-79.
3. Rapaport D, Lugassy Y, Sprecher E, Horowitz M. Loss of SNAP29 impairs endocytic recycling and cell motility. PloS one. 2010; 5(3):e9759.
4. Sprecher E, Ishida-Yamamoto A, Mizrahi-Koren M, Rapaport D, Goldsher D, Indelman M, et al. A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. The American Journal of Human Genetics. 2005; 77(2):242-51.
5. West Greenlee M, Finley S, Wilson M, Jacobson C, Sakaguchi D. Transient, high levels of SNAP‐25 expression in cholinergic amacrine cells during postnatal development of the mammalian retina. Journal of Comparative Neurology. 1998; 394(3):374-85.
6. Fuchs‐Telem D, Stewart H, Rapaport D, Nousbeck J, Gat A, Gini M, et al. CEDNIK syndrome results from loss‐of‐function mutations in SNAP29. British Journal of Dermatology. 2011; 164(3):610-6.
7. Ben-Salem S, Nara S, Al-Shamsi AM, Valle D, Ali BR, Al-Gazali L. A new Arab family with CEDNIK syndrome suggests a possible founder effect for the c. 223delG mutation. The Journal of dermatology. 2015; 42(8):821.
8. Hsu T, Coughlin CC, Monaghan KG, Fiala E, McKinstry RC, Paciorkowski AR, et al. CEDNIK: phenotypic and molecular characterization of an additional patient and review of the literature. Child Neurology Open. 2017; 4:2329048X17733214.
9. Poojary S, Shah KS, Bhalala KB, Hegde AU. CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene. Pediatric dermatology. 2019; 36(3):372-6.
10. Tiwana H, Raymond G, Kumar A. CEDNIK syndrome, a rare neuro-cutaneous disorder (P1.6-050). Neurology. 2019; 92(15 Supplement):P1.6-050.
11. McDonald-McGinn DM, Fahiminiya S, Revil T, Nowakowska BA, Suhl J, Bailey A, et al. Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11. 2DS. Journal of medical genetics. 2013; 50(2):80-90.
12. Rizzo WB, Jenkens SM, Boucher P, editors. Recognition and diagnosis of neuro-ichthyotic syndromes. Semin Neurol 2012;32:75-84.
| Files | ||
| Issue | Vol 60, No 3 (2022) | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/acta.v60i3.9009 | |
| Keywords | ||
| Ichthyosis Cerebral dysgenesis Keratoderma Neurology Pediatrics | ||
| Rights and permissions | |
|
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Ashrafzadeh F, Esmaeilzadeh M, Mohammadi Asl J, Hashemi N, Imannezhad S, Saeedi Zand N, Mirzadeh HS. CEDNIK Syndrome, a Rare Neuro-Cutaneous Disorder in an Iranian Patient: Case Report and Review of Specific Neuro-Ichthyotic Syndromes. Acta Med Iran. 2022;60(3):198-201.
