An 11-Year-Old Girl With Rare Diagnosis of Meier-Gorlin Syndrome Accompanied by Neonatal Seizure, Mental Retardation, and Attention Deficit Hyperactivity Disorder: A Case Report and Review of Literature
-
Shahin Koomanaee
,
Setila Dalili
,
Seyyedeh Azade Hoseini Nouri
,
Seyedeh Zohreh Jalali
,
Manijeh Tabrizi
,
Ghazaleh Aldaghi
,
Afagh Hassanzadeh Rad
Abstract
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder with homozygous or heterozygous mutations in one of the five following genes (ORC1, ORC4, ORC6, CDT1, and CDC6). This syndrome is characterized by the triad of short stature (pre/postnatal), microtia, and patella hypoplasia/aplasia. Special features included microcephaly, microstomia, full lips, micrognathia, narrow convex, and high nasal bridge nose. Also, it may be accompanied by feeding problems, skeletal disorders, urogenital or respiratory anomalies, and intelligence disorders. This case report describes the first Persian MGS accompanied by neonatal seizure, mental retardation, and attention deficit hyperactivity disorder.
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8. Kruglov I, Rumyantsev N, Omarov G, Rumyantseva N, Kagantsov IM. Meyer-Gorlin syndrome in combination with congenital dislocation of the knee: a clinical case. Pediatric Traumatology, Orthopaedics and Reconstructive Surgery. 2021 Nov 22.
9. Dalili S, Mohammadi H, Rezvany SM, Dadashi A, Novin MH, Gholaminejad H, Medghalchi A, Amiri ZM, Dalili H, Rad AH. The relationship between blood pressure, anthropometric indices and metabolic profile in adolescents: a cross sectional study. The Indian Journal of Pediatrics. 2015 May;82(5):445-9.
10.- Shawky RM, Elabd HS, Gamal R, Mohammad SA, Gad S. Meier-Gorlin syndrome: Report of an additional patient with congenital heart disease. Egyptian Journal of Medical Human Genetics. 2014 Oct 1;15(4):393-8.
11. Al-Dosari MS, Shaheen R, Colak D, Alkuraya FS. Novel CENPJ mutation causes Seckel syndrome. Journal of medical genetics. 2010 Jun 1;47(6):411-4.
12. Khan AA, Reddy C, Saini AG, Vyas S. Meier-Gorlin syndrome presenting as early infantile epileptic encephalopathy. BMJ Case Reports. 2020 Aug 1;13(8).
13. Stenzel M, Schulz S, Fiedler A, Vilser C, Doerfel MH. Meier-Gorlin syndrome type 1 in a 3 years old female-clinical, radiologic and genetic data. InISDS Meeting Bologna 2013.
14.de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, Van BY, Bober MB, et al. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet. 2012.
15. Kalappanavar NK, Gouli C, Syed Nasiruddin I. Meier-Gorlin syndrome with papilloedema. J Pub Health Med Res. 2013;1(1):53-4.
2.Guernsey DL, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, et al. Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. Nat Genet. 2011;43:360–4.
3.Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, Harley ME, et al. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet. 2011;43:356–9.
4. Klingseisen A, Jackson AP. Mechanisms and pathways of growth failure in primordial dwarfism. Genes & development. 2011 Oct 1;25(19).
5. Morankar RG, Goyal A, Gauba K, Kapur A. Dentofacial characteristics in a child with Meier–Gorlin syndrome: A rare case report. The Saudi dental journal. 2018 Jul 1;30(3):260-4.
6. Kuo AJ, Song J, Cheung P, Ishibe-Murakami S, Yamazoe S, Chen JK, Patel DJ, Gozani O. The BAH domain of ORC1 links H4K20me2 to DNA replication licensing and Meier–Gorlin syndrome. Nature. 2012 Apr;484(7392):115-9.
7. Vetro A, Savasta S, Raucci AR, Cerqua C, Sartori G, Limongelli I, Forlino A, Maruelli S, Perucca P, Vergani D, Mazzini G. MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome. European Journal of Human Genetics. 2017 May;25(5):646-50.
8. Kruglov I, Rumyantsev N, Omarov G, Rumyantseva N, Kagantsov IM. Meyer-Gorlin syndrome in combination with congenital dislocation of the knee: a clinical case. Pediatric Traumatology, Orthopaedics and Reconstructive Surgery. 2021 Nov 22.
9. Dalili S, Mohammadi H, Rezvany SM, Dadashi A, Novin MH, Gholaminejad H, Medghalchi A, Amiri ZM, Dalili H, Rad AH. The relationship between blood pressure, anthropometric indices and metabolic profile in adolescents: a cross sectional study. The Indian Journal of Pediatrics. 2015 May;82(5):445-9.
10.- Shawky RM, Elabd HS, Gamal R, Mohammad SA, Gad S. Meier-Gorlin syndrome: Report of an additional patient with congenital heart disease. Egyptian Journal of Medical Human Genetics. 2014 Oct 1;15(4):393-8.
11. Al-Dosari MS, Shaheen R, Colak D, Alkuraya FS. Novel CENPJ mutation causes Seckel syndrome. Journal of medical genetics. 2010 Jun 1;47(6):411-4.
12. Khan AA, Reddy C, Saini AG, Vyas S. Meier-Gorlin syndrome presenting as early infantile epileptic encephalopathy. BMJ Case Reports. 2020 Aug 1;13(8).
13. Stenzel M, Schulz S, Fiedler A, Vilser C, Doerfel MH. Meier-Gorlin syndrome type 1 in a 3 years old female-clinical, radiologic and genetic data. InISDS Meeting Bologna 2013.
14.de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, Van BY, Bober MB, et al. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet. 2012.
15. Kalappanavar NK, Gouli C, Syed Nasiruddin I. Meier-Gorlin syndrome with papilloedema. J Pub Health Med Res. 2013;1(1):53-4.
| Files | ||
| Issue | Vol 60 No 9 (2022) | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/acta.v60i9.11102 | |
| Keywords | ||
| Meier-Gorlin syndrome Seizures Intellectual disability Neonatal seizure Attention deficit disorder with hyperactivity | ||
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Koomanaee S, Dalili S, Hoseini Nouri SA, Jalali SZ, Tabrizi M, Aldaghi G, Hassanzadeh Rad A. An 11-Year-Old Girl With Rare Diagnosis of Meier-Gorlin Syndrome Accompanied by Neonatal Seizure, Mental Retardation, and Attention Deficit Hyperactivity Disorder: A Case Report and Review of Literature. Acta Med Iran. 2022;60(9):599-603.
