A splice-site variant in ANKRD11 associated with classical KBG syndrome

被引：5
作者：
Low, Karen J. [1 ]
Hills, Alison [2 ]
Williams, Maggie [2 ]
Duff-Farrier, Celia [2 ]
McKee, Shane [3 ]
Smithson, Sarah F. [1 ]
机构：
[1] Univ Hosp Bristol NHS Trust, Bristol, Avon, England
[2] North Bristol NHS Trust, Bristol Genet Lab, Bristol, Avon, England
[3] Belfast HSC Trust, Northern Ireland Reg Genet Serv, Belfast, Antrim, North Ireland
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2017年 / 173卷 / 10期
关键词：
MUTATIONS;
D O I：
10.1002/ajmg.a.38397
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：2844 / 2846
页数：3
相关论文
共 50 条
  • [41] A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV
    Hussain, Shabir
    Nawaz, Shoaib
    Khan, Hammal
    Acharya, Anushree
    Schrauwen, Isabelle
    Ahmad, Wasim
    Leal, Suzanne M.
    ANNALS OF HUMAN GENETICS, 2022, 86 (06) : 291 - 296
  • [42] PC Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report
    Tao, DongYing
    Zhang, HuiQin
    Yang, Jingmin
    Niu, HuanHong
    Zhang, JingJing
    Zeng, Minghua
    Cheng, ShengQuan
    FRONTIERS IN PEDIATRICS, 2022, 10
  • [43] Novel biallelic splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient
    Katagiri, Satoshi
    Hosono, Katsuhiro
    Hayashi, Takaaki
    Murai, Noriyuki
    Wake, Eiichi
    Miyata, Ichiro
    Mizobuchi, Kei
    Kurata, Kentaro
    Matsuura, Tomokazu
    Nakano, Tadashi
    Hotta, Yoshihiro
    DOCUMENTA OPHTHALMOLOGICA, 2020, 141 (01) : 77 - 88
  • [44] A novel splice variant in intron 10 of PEX6 is associated with Zellweger Syndrome in a Chinese neonate
    Yang, Pin
    Zhang, Weihong
    Zeng, Lingkong
    Tao, Xuwei
    Ding, Kaiwei
    Wang, Zuo
    GENE, 2024, 928
  • [45] A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome
    Micolonghi, Caterina
    Piane, Maria
    Germani, Aldo
    Sadeghi, Soha
    Libi, Fabio
    Savio, Camilla
    Fabiani, Marco
    Mancini, Rita
    Ranieri, Danilo
    Pizzuti, Antonio
    Corleto, Vito Domenico
    Parisi, Pasquale
    Visco, Vincenzo
    Di Nardo, Giovanni
    Petrucci, Simona
    DIAGNOSTICS, 2022, 12 (11)
  • [46] A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency
    Lara-Velazquez, Montserrat
    Perdomo-Pantoja, Alexander
    Blackburn, Patrick R.
    Gass, Jennifer M.
    Caulfield, Thomas R.
    Atwal, Paldeep S.
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2017, 5 (06): : 781 - 787
  • [47] Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms
    Cassini, Thomas A.
    Duncan, Laura
    Rives, Lynette C.
    Newman, John H.
    Phillips, John A.
    Koziura, Mary E.
    Brault, Jennifer
    Hamid, Rizwan
    Cogan, Joy
    Adams, Christopher J.
    Adams, David R.
    Alejandro, Mercedes E.
    Allard, Patrick
    Ashley, Euan A.
    Azamian, Mashid S.
    Bacino, Carlos A.
    Balasubramanyam, Ashok
    Barseghyan, Hayk
    Beggs, Alan H.
    Bellen, Hugo J.
    Bernstein, Jonathan A.
    Bick, David P.
    Birch, Camille L.
    Boone, Braden E.
    Bostwick, Bret L.
    Briere, Lauren C.
    Brown, Donna M.
    Brush, Matthew
    Burke, Elizabeth A.
    Burrage, Lindsay C.
    Chao, Katherine R.
    Chen, Shan
    Clark, Gary D.
    Cooper, Cynthia M.
    Craigen, William J.
    Davids, Mariska
    Dayal, Jyoti G.
    Dell'Angelica, Esteban C.
    Dhar, Shweta U.
    Dipple, Katrina M.
    Donnell-Fink, Laurel A.
    Dorrani, Naghmeh
    Dorset, Daniel C.
    Draper, David D.
    Dries, Annika M.
    Eckstein, David J.
    Emrick, Lisa T.
    Eng, Christine M.
    Esteves, Cecilia
    Estwick, Tyra
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (06):
  • [48] Copper-histidine therapy in an infant with novel splice-site variant in the ATP7A gene of Menkes disease: the first experience in South East Asia and literature review
    Panichsillaphakit, Ekkarit
    Kwanbunbumpen, Tanisa
    Chomtho, Sirinuch
    Visuthranukul, Chonnikant
    BMJ CASE REPORTS, 2022, 15 (04)
  • [49] Novel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea
    Kim, So Young
    Lee, Da-hye
    Han, Jin Hee
    Choi, Byung Yoon
    DIAGNOSTICS, 2020, 10 (05)
  • [50] NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination
    Ijaz, Ambreen
    Alfadhli, Fatima
    Alharbi, Azizah
    Khan, Yasir Naseem
    Alhawas, Yasser Khaled
    Hashmi, Jamil A.
    Wali, Abdul
    Basit, Sulman
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2022, 65 (10)
12345