A familial optic atrophy associated with mild neurodevelopmental disorder caused by SOX5 haploinsufficiency

被引：0
|
作者：
Gouronc, A. [1 ]
Perdomo, Y. [2 ]
Maurin, L. [2 ]
Schalk, A. [1 ]
El Chehadeh, S. [3 ]
Schaefer, E. [3 ]
Dollfus, H. [2 ,3 ]
Scheidecker, S. [1 ]
机构：
[1] Hop Univ Strasbourg, Labs Diagnost Genet, Strasbourg, France
[2] Hop Univ Strasbourg, Ctr Reference Affect Rares Genet Ophtalmol CARGO, Strasbourg, France
[3] Hop Univ Strasbourg, Serv Genet Med, Strasbourg, France
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P02.48B
引用
收藏
页码：1235 / 1236
页数：2
相关论文
共 50 条
  • [41] Deleterious variants in the autophagy regulator CLEC16A are associated with microcephaly, brain atrophy, growth retardation and a severe neurodevelopmental disorder
    Smits, Daphne J.
    Schot, Rachel
    Wilke, Martina
    van Slegtenhorst, Marjon
    Tabarki, Brahim
    Alhashem, Amal
    Romito, Antonio
    Bertoli-Avella, Aida M.
    Mancini, Grazia M. S.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 270 - 271
  • [42] Mild neurodevelopmental disorder due to reduced SHMT2 enzymatic activity caused by novel compound heterozygous variants: expanding the phenotypic spectrum
    Pan, Hu
    He, Mei
    Luo, Xuan
    Hu, Juanli
    Mao, Xiao
    Cheng, Yong
    Liu, Zhen
    NEUROGENETICS, 2024, 26 (01)
  • [43] Novel KMT5B variant associated with neurodevelopmental disorder in a Chinese family: A case report
    Tong, Jiao
    Chen, Xu
    Wang, Xin
    Men, Shuai
    Liu, Yuan
    Sun, Xun
    Yan, Dongmei
    Wang, Leilei
    HELIYON, 2024, 10 (07)
  • [44] Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder
    Benjamin J. Grosso
    Audra A. Kramer
    Sidharth Tyagi
    Daniel F. Bennett
    Cynthia J. Tifft
    Precilla D’Souza
    Michael F. Wangler
    Ellen F. Macnamara
    Ulises Meza
    Roger A. Bannister
    Scientific Reports, 12
  • [45] Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder
    Grosso, Benjamin J.
    Kramer, Audra A.
    Tyagi, Sidharth
    Bennett, Daniel F.
    Tifft, Cynthia J.
    D'Souza, Precilla
    Wangler, Michael F.
    Macnamara, Ellen F.
    Meza, Ulises
    Bannister, Roger A.
    SCIENTIFIC REPORTS, 2022, 12 (01)
  • [46] A SEX-LINKED HEREDO-DEGENERATIVE NEUROLOGICAL DISORDER, ASSOCIATED WITH LEBERS OPTIC ATROPHY .1. CLINICAL STUDIES
    BRUYN, GW
    WENT, LN
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 1964, 1 (01) : 59 - 80
  • [47] A SEX-LINKED HEREDO-DEGENERATIVE NEUROLOGICAL DISORDER, ASSOCIATED WITH LEBERS OPTIC ATROPHY .2. LABORATORY INVESTIGATIONS
    WENT, LN
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 1964, 1 (01) : 81 - 87
  • [48] Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene
    Eiberg, H
    Hansen, L
    Kjer, B
    Hansen, T
    Pedersen, O
    Bille, M
    Rosenberg, T
    Tranebjærg, L
    JOURNAL OF MEDICAL GENETICS, 2006, 43 (05) : 435 - 440
  • [49] A novel mutation in the SOX5 gene c.1627del; p.(Tyr543IlefsTer14) is associated to Lamb–Shaffer syndrome: a case report
    Jose Cuenca Alcocel
    Elena Criado Álamo
    Elvira Salvador-Rupérez
    Nuria Goñi Ros
    Silvia Izquierdo Álvarez
    Jose Luis Peña Segura
    Ricardo González-Tarancón
    Egyptian Journal of Medical Human Genetics, 24
  • [50] Biallelic MAPKAPK5 pathogenic variants are associated with a distinct syndromic neurodevelopmental disorder with craniofacial, digital and neuroradiological abnormalities
    Efthymiou, Stephanie
    Maroofian, Reza
    Suri, Mohnish
    Rahman, Fatima
    Zaki, Maha
    Maqbool, Shazia
    Anwar, Najwa
    Ruiz-Perez, Victor L.
    Sudhakar, Sniya
    Mankad, Kshitij
    Harel, Tamar
    Houlden, Henry
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 179 - 180
12345