AHI1 gene mutation in a consanguineous Iranian family affected by Joubert syndrome: A case report

被引：5
|
作者：
Neissi, Mostafa [1 ,2 ]
Mabudi, Hadideh [2 ]
Mohammadi-Asl, Javad [2 ,3 ]
机构：
[1] Islamic Azad Univ, Dept Genet, Khuzestan Sci & Res Branch, Ahvaz, Iran
[2] Islamic Azad Univ, Dept Genet, Ahvaz Branch, Ahvaz, Iran
[3] Ahvaz Jundishapur Univ Med Sci, Sch Med, Dept Med Genet, Ahvaz, Iran
来源：
CLINICAL CASE REPORTS | 2021年 / 9卷 / 10期
关键词：
AHI1; gene; Joubert syndrome; mutation; ABNORMAL EYE-MOVEMENTS; ATAXIA; VERMIS;
D O I：
10.1002/ccr3.5002
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
This point of detected mutation could be considered as a novel mutational hotspot point that carried in patient ancestors. Moreover, the obtained results and family history suggest a precise genetic consulting and molecular prenatal evaluation for suspect individuals with a family history of mental and physical abnormalities.
引用
收藏
页数：5
相关论文
共 50 条
  • [31] A novel heterozygous TPM2 gene mutation (c.456G>C; p.Lys152Asn) in an Iranian family affected by distal arthrogryposis type 1: a case report
    Neissi, Mostafa
    Sheikh-Hosseini, Motahareh
    Mohammadi-Asl, Javad
    Al-Badran, Adnan Issa
    EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, 2022, 23 (01)
  • [32] A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report
    Li, Min
    Liu, Jia
    Yi, Huan
    Xu, Li
    Zhong, Xiufeng
    Peng, Fuhua
    BMC PEDIATRICS, 2018, 18
  • [33] A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report
    Dehghan Tezerjani, Masoud
    Maroofian, Reza
    Vahidi Mehrjardi, Mohammad Yahya
    Chioza, Barry A.
    Zamaninejad, Shiva
    Kalan-Tar, Seyed Mehdi
    Nori-Shadkam, Mahmoud
    Ghadimi, Hamidreza
    Baple, Emma L.
    Crosby, Andrew H.
    Dehghani, Mohammadreza
    IRANIAN JOURNAL OF PUBLIC HEALTH, 2016, 45 (10) : 1359 - 1366
  • [34] Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report
    Charnwichai, Pattaranatcha
    Yeetong, Patra
    Suphapeetiporn, Kanya
    Supornsilchai, Vichit
    Sahakitrungruang, Taninee
    Shotelersuk, Vorasuk
    BMC ENDOCRINE DISORDERS, 2016, 16
  • [35] Diabetes mellitus caused by a mutation of glucokinase gene. Report of an affected family
    Felipe Pollak, C.
    Marcela Lagos, L.
    Santos M., Jose L.
    Poggi, Helena
    Abraham Urzua, C.
    Hana Rumie, C.
    REVISTA MEDICA DE CHILE, 2017, 145 (09) : 1203 - 1207
  • [36] New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report
    Salas-Alanis, Julio C.
    Scott, Claire A.
    Fajardo-Ramirez, Oscar R.
    Duran, Carola
    Moreno-Trevino, Maria G.
    Kelsell, David P.
    MOLECULAR SYNDROMOLOGY, 2016, 7 (03) : 160 - 163
  • [37] Segregation of a novel MLH1 mutation in an Iranian Lynch syndrome family
    Ghafouri-Fard, Soudeh
    Fardaei, Majid
    Lankarani, Kamran Bagheri
    Miryounesi, Mohammad
    GENE, 2015, 570 (02) : 304 - 305
  • [38] Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis
    Bibi Zubaida
    Muhammad Almas Hashmi
    Huma Arshad Cheema
    Muhammad Naeem
    Journal of Genetics, 2018, 97 : 1445 - 1449
  • [39] Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis
    Zubaida, Bibi
    Hashmi, Muhammad Almas
    Cheema, Huma Arshad
    Naeem, Muhammad
    JOURNAL OF GENETICS, 2018, 97 (05) : 1445 - 1449
  • [40] Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report
    H. Berrani
    T. Meskini
    M. Zerkaoui
    H. Merhni
    S. Ettair
    A. Sefiani
    N. Mouane
    BMC Pediatrics, 18
12345