Journal of Diagnostics Concepts & Practice ›› 2023, Vol. 22 ›› Issue (01): 58-63.doi: 10.16150/j.1671-2870.2023.01.009
• Original articles • Previous Articles Next Articles
ZHANG Xuelei, HE Qinyu, ZHANG Xiwen, CHEN Lifen, DONG Zhiya()
Received:
2022-03-15
Online:
2023-02-25
Published:
2023-07-06
Contact:
DONG Zhiya
E-mail:dzy831@126.com
CLC Number:
ZHANG Xuelei, HE Qinyu, ZHANG Xiwen, CHEN Lifen, DONG Zhiya. Genotype and clinical phenotype analysis of a case of Stankiewicz-Isidor syndrome and literature review[J]. Journal of Diagnostics Concepts & Practice, 2023, 22(01): 58-63.
Table 2
Comparison of clinical phenotypes caused by PSMD12 mutations between the children reported in this case and those reported previously
Clinical phenotypes | Clinical phenotypes reported(46 cases) | Clinical phenotype of the child |
---|---|---|
Gender | Male(25/46),Female(21/46) | Male |
Age at assessment | 1 d~42 years | 4 years |
Growth retantation | 41/46 | + |
Craniofacial abnomalities | 39/46 | + |
Intellectual disability | 33/46 | - |
Delay motor | 17/46 | - |
Delay speech | 33/46 | - |
Seizures | 6/46 | - |
Autism | 5/46 | - |
Ophthalmological malformations | 24/46 | + |
Deafness | 23/46 | - |
Hypotonia | 8/46 | + |
Feeding difficulties | 17/46 | + |
Brain MRI | 6/46 | - |
Chilblains resembling signs | 2/46 | - |
Urticaria | 2/46 | - |
[1] |
KÜRY S, BESNARD T, EBSTEIN F, et al. De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder[J]. Am J Hum Genet, 2017, 100(4):689.
doi: S0002-9297(17)30106-4 pmid: 28388435 |
[2] |
KHALIL R, KENNY C, HILL R S, et al. PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features[J]. Am J Med Genet B Neuropsychiatr Genet, 2018, 177(8):736-745.
doi: 10.1002/ajmg.v117.8 URL |
[3] | PALUMBO P, PALUMBO O, ESTER D M, et al. Expan-ding the clinical and molecular spectrum of PSMD12-related neurodevelopmental syndrome:an additional patient and review[J]. Arch Clin Med Case Rep, 2019; 3(5):250-260. |
[4] |
ISIDOR B, EBSTEIN F, HURST A, et al. Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype[J]. Genet Med, 2022, 24(1):179-191.
doi: 10.1016/j.gim.2021.09.005 URL |
[5] |
YAN K, ZHANG J, LEE P Y, et al. Haploinsufficiency of PSMD12 Causes Proteasome Dysfunction and Subclinical Autoinflammation[J]. Arthritis Rheumatol, 2022, 74(6):1083-1090.
doi: 10.1002/art.v74.6 URL |
[6] |
TAVTIGIAN S V, HARRISON S M, BOUCHER K M, et al. Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines[J]. Hum Mutat, 2020, 41(10):1734-1737.
doi: 10.1002/humu.v41.10 URL |
[7] |
HAN B, LUO J, JIANG P, et al. Inhibition of embryonic HSP 90 function promotes variation of cold tolerance in zebrafish[J]. Front Genet, 2020, 11:541944.
doi: 10.3389/fgene.2020.541944 URL |
[8] |
FÖRSTER F, UNVERDORBEN P, SLEDŹ P, et al. Unveiling the long-held secrets of the 26S proteasome[J]. Structure, 2013, 21(9):1551-1562.
doi: 10.1016/j.str.2013.08.010 pmid: 24010714 |
[9] |
HANCAROVA M, MALIKOVA M, KOTROVA M, et al. Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres[J]. Am J Med Genet A, 2018, 176(6):1438-1442.
doi: 10.1002/ajmg.a.38711 pmid: 29696806 |
[10] |
STANKIEWICZ P, KHAN T N, SZAFRANSKI P, et al. Haploinsufficiency of the chromatin remodeler BPTF causes syndromic developmental and speech delay, postnatal microcephaly, and dysmorphic features[J]. Am J Hum Genet, 2017, 101(4):503-515.
doi: S0002-9297(17)30336-1 pmid: 28942966 |
[11] |
ROSENFELD J A, PATEL A. Chromosomal microarrays: understanding genetics of neurodevelopmental disorders and congenital anomalies[J]. J Pediatr Genet, 2017, 6(1):42-50.
doi: 10.1055/s-0036-1584306 pmid: 28180026 |
[12] |
RICE G I, MELKI I, FRÉMOND M L, et al. Assessment of type I interferon signaling in pediatric inflammatory disease[J]. J Clin Immunol, 2017, 37(2):123-132.
doi: 10.1007/s10875-016-0359-1 pmid: 27943079 |
[13] |
ZHANG N, OSBORN M, GITSHAM P, et al. Using yeast to place human genes in functional categories[J]. Gene, 2003, 303:121-129.
pmid: 12559573 |
[14] |
GAMBIN T, YUAN B, BI W, et al. Identification of novel candidate disease genes from de novo exonic copy number variants[J]. Genome Med, 2017, 9(1):83.
doi: 10.1186/s13073-017-0472-7 pmid: 28934986 |
[15] |
DAMBACHER C M, WORDEN E J, HERZIK M A, et al. Atomic structure of the 26S proteasome lid reveals the mechanism of deubiquitinase inhibition[J]. Elife, 2016, 5:e13027.
doi: 10.7554/eLife.13027 URL |
[16] |
SAEZ I, KOYUNCU S, GUTIERREZ G R, et al. Insights into the ubiquitin-proteasome system of human embryonic stem cells[J]. Sci Rep, 2018, 8(1):4092.
doi: 10.1038/s41598-018-22384-9 pmid: 29511261 |
[17] |
SAXTON R A, SABATINI D M. MTOR signaling in growth,metabolism,and disease[J]. Cell, 2017, 168(6):960-976.
doi: 10.1016/j.cell.2017.02.004 URL |
[18] | TĂRLUNGEANU D C, NOVARINO G. Genomics in neurodevelopmental disorders: an avenue to personalized medicine[J]. Exp Mol Med, 2018, 50(8):1-7. |
[19] |
ISIDOR B, KÜRY S, ROSENFELD J A, et al. De novo truncating mutations in the kinetochore-microtubules attachment gene CHAMP1 cause syndromic intellectual disability[J]. Hum Mutat, 2016, 37(4):354-358.
doi: 10.1002/humu.22952 pmid: 26751395 |
[20] | NAUD M E, TOSCA L, MARTINOVIC J, et al. Prenatal diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion encompassing KPNA2 and PSMD 12 Genes in a fetus with craniofacial dysmorphism, equinovarus feet, and syndactyly[J]. Case Rep Genet, 2017; 2017:7803136. |
[21] |
SARRABAY G, MÉCHIN D, SALHI A, et al. PSMB10, the last immunoproteasome gene missing for PRAAS[J]. J Allergy Clin Immunol, 2020, 145(3):1015-1017.
doi: S0091-6749(19)31607-0 pmid: 31783057 |
[1] | LIU Jiajie, SHAO Yanyan, LIANG Qian, DING Qiulan. Phenotype and genotype diagnosis of 6 pedigrees with inherited coagulation factor Ⅹ deficiency [J]. Journal of Diagnostics Concepts & Practice, 2020, 19(1): 20-27. |
[2] | WANG Juan, LI Jia. Epidemiological analysis of human papilloma virus infection in male patients with condyloma acuminatum during 2017-2018 in Shanghai [J]. Journal of Diagnostics Concepts & Practice, 2020, 19(06): 572-576. |
[3] | WANG Guoqing, LI Zhen, PENG Yibing. Application of microsatellite polymorphism and repetitive sequence-based PCR in genotyping of Candida tropicalis [J]. Journal of Diagnostics Concepts & Practice, 2019, 18(1): 77-81. |
[4] | LIU Houchang, PAN Yunhua, ZHANG Kai, WANG Shuihua. Genotypes of HCV among 276 patients with hepatitis C virus infection in People's Hospital of Dehong Prefecture, Yunnan Province [J]. Journal of Diagnostics Concepts & Practice, 2018, 17(03): 322-327. |
[5] | GU Zhengrong, WU Hong, WANG Ling. Significance of HPV genotype detection in diagnosis of cervical lesion [J]. Journal of Diagnostics Concepts & Practice, 2016, 15(05): 517-520. |
[6] | . [J]. Journal of Diagnostics Concepts & Practice, 2015, 14(06): 514-518. |
[7] | . [J]. Journal of Diagnostics Concepts & Practice, 2014, 13(01): 44-48. |
[8] | . [J]. Journal of Diagnostics Concepts & Practice, 2007, 6(01): 40-42. |
[9] | . [J]. Journal of Diagnostics Concepts & Practice, 2005, 4(01): 55-58. |
Viewed | ||||||
Full text |
|
|||||
Abstract |
|
|||||