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"Variant"

Case Report

Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family
Yong Rok Kim, Jong Bum Park, Yung Jin Lee, Mi Jin Hong, Hyeong Tae Kim, Hyon J. Kim
Ann Rehabil Med 2017;41(3):505-510.   Published online June 29, 2017
DOI: https://doi.org/10.5535/arm.2017.41.3.505

Diagnostic exome sequencing (DES) is a powerful tool to analyze the pathogenic variants leading to development delay (DD) and intellectual disability (ID). Recently, heterozygous de novo mutation of the histone acetyltransferase encoding gene KAT6B has been recognized as causing a syndrome with congenital anomalies and intellectual disability, namely Say-Barber-Biesecker-Young-Simpson (SBBYS) syndrome. Here we report a case of SBBYS syndrome in a third generation Korean family affected with a missense mutation in KAT6B, c.2292C>T p.(His767Tyr) identified by DES. This is the first confirmed familial inherited mutation of the KAT6B reported worldwide. Our case emphasizes again the importance of basic physical examination and taking a family history. Furthermore, advances in genetic diagnostic tools are becoming key to identifying the etiology of DD and ID. This allows a physiatrist to predict the disease's clinical evolution with relative certainty, and offer an appropriate rehabilitation plan for patients.

Citations

Citations to this article as recorded by  
  • Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature
    Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli
    American Journal of Medical Genetics Part A.2025;[Epub]     CrossRef
  • Variable expressivity of a transmitted pathogenic KAT6B variant
    Ninna Bager Rasmussen, Pernille Axél Gregersen, Trine Østergaard Nielsen, Line Graven Lyngdorf, Christine Kroer Nielsen, Casper Kruse, Michael Bayat, Philippe M. Campeau, Anne Skakkebæk
    European Journal of Medical Genetics.2025; 76: 105020.     CrossRef
  • De novo KAT6B mutation causes Say–Barber–Biesecker–Young–Simpson variant of Ohdo syndrome in an Iranian boy: a case report
    Behzad Davarnia, Mohammad Panahi, Bahareh Rahimi, Hassan Anari, Reza Farajollahi, Ehsan Abbaspour Rodbaneh, Farhad Jeddi
    Journal of Medical Case Reports.2024;[Epub]     CrossRef
  • Clinical heterogeneity of polish patients with KAT6B–related disorder
    Klaniewska Magdalena, Bolanowska‐Tyszko Anna, Latos‐Bielenska Anna, Jezela‐Stanek Aleksandra, Szczaluba Krzysztof, Krajewska‐Walasek Malgorzata, Ciara Elzbieta, Pelc Magdalena, Jurkiewicz Dorota, Stawinski Piotr, Zubkiewicz‐Kucharska Agnieszka, Rydzanicz
    Molecular Genetics & Genomic Medicine.2023;[Epub]     CrossRef
  • Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes
    Naoto Nishimura, Yumi Enomoto, Tatsuro Kumaki, Hiroaki Murakami, Azusa Ikeda, Tomohide Goto, Kenji Kurosawa
    Molecular Syndromology.2022; 13(3): 221.     CrossRef
  • A neonate with Say–Barber–Biesecker–Young–Simpson syndrome with a novel pathogenic mutation in KAT6B gene: A case report
    Ji Hye Shin, Han Hyuk Lim, Mi Hyeon Gang, Seon Young Kim, Shin-seung Yang, Mea-young Chang
    Journal of Genetic Medicine.2021; 18(2): 147.     CrossRef
  • Mutación de novo en KAT6B, síndrome Say-Barber-Biesecker-Young-Simpson y trastorno específico del lenguaje
    D.M. Fernández-Mayoralas, B. Calleja-Pérez, S. Álvarez, A. Fernández-Jaén
    Neurología.2020; 35(8): 601.     CrossRef
  • A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say–Barber–Biesecker–Young–Simpson syndrome
    Rodrigo Mendez, Marisol Delea, Liliana Dain, Monica Rittler
    Clinical Dysmorphology.2020; 29(1): 42.     CrossRef
  • Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
    Li Xin Zhang, Gabrielle Lemire, Claudia Gonzaga-Jauregui, Sirinart Molidperee, Carolina Galaz-Montoya, David S. Liu, Alain Verloes, Amelle G. Shillington, Kosuke Izumi, Alyssa L. Ritter, Beth Keena, Elaine Zackai, Dong Li, Elizabeth Bhoj, Jennifer M. Tarp
    Genetics in Medicine.2020; 22(8): 1338.     CrossRef
  • De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment
    D.M. Fernández-Mayoralas, B. Calleja-Pérez, S. Álvarez, A. Fernández-Jaén
    Neurología (English Edition).2020; 35(8): 601.     CrossRef
  • The key roles of the lysine acetyltransferases KAT6A and KAT6B in physiology and pathology
    Naama Wiesel-Motiuk, Yehuda G. Assaraf
    Drug Resistance Updates.2020; 53: 100729.     CrossRef
  • Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum
    T. Michael Yates, Claire L.M. Langley, Detelina Grozeva, F. Lucy Raymond, Diana S. Johnson
    Clinical Genetics.2019; 95(2): 334.     CrossRef
  • The many lives of KATs — detectors, integrators and modulators of the cellular environment
    Bilal N. Sheikh, Asifa Akhtar
    Nature Reviews Genetics.2019; 20(1): 7.     CrossRef
  • 10,375 View
  • 98 Download
  • 11 Web of Science
  • 13 Crossref
Original Article
Nerve Conduction Study of the Superficial Peroneal Sensory Distal Branches in Koreans
Yeong-A Ko, Young Jin Ko, Hye Won Kim, Seong Hoon Lim, Byung Woo Yang, Sung-Hee Jung, Sun Im
Ann Rehabil Med 2011;35(4):548-556.   Published online August 31, 2011
DOI: https://doi.org/10.5535/arm.2011.35.4.548
Objective

To perform nerve conduction studies of the four branches of the superficial peroneal nerves to determine normal values and anatomic variations in Koreans.

Method

Antidromic sensory nerve conduction studies of the four distal branches were performed on 70 healthy subjects (100 feet). We applied electrical stimulation at the midpoint of medial and lateral malleoli for the medial dorsal cutaneous nerve (MDCN), and at the lateral 1/4 point between the medial and lateral malleoli for the 2 branches of the intermediate dorsal cutaneous nerve (IDCN).

Results

Reference values (mean±SD) of the onset/ peak latency (ms)/ sensory action potential amplitude (µV) for the two branches of the MDCN and for the first branch of the IDCN were 2.2±0.3/2.9±0.3/9.2±3.1, 2.2±0.3/2.8±0.3/9.1±3.0 and 2.3±0.4/2.9±0.3/8.5±2.8, respectively. For the second IDCN branch, the reference values were 2.3±0.4/3.0±0.4/7.1±2.6 but anomalous sural innervation was also found. Three types of IDCN innervations to the fourth interdigital web space were detected. In type I, the fourth interdigital webspace was innervated solely by the IDCN, whereas in type II, it was innervated by both the IDCN and distal sural nerve. In type III, it was solely innervated by the distal sural nerve.

Conclusion

The results of this study show the reference values of the distal sensory branches of the superficial peroneal nerve, and provide information on the variant innervations to the fourth interdigital web space.

Citations

Citations to this article as recorded by  
  • Compound Nerve Action Potential of the Distal Superficial Peroneal Nerve: Definition of a New Method and Normative Data
    Memet Aslanyavrusu, Fahrettin Ege, Gülhan Sarıçam Yapar
    Neurological Sciences and Neurophysiology.2025; 42(3): 94.     CrossRef
  • Association between sensory nerve action potential and lumbar dorsal root ganglion area
    Jaewon Beom, Sujin Kim, Hoon Chang Suh, Don-Kyu Kim, Si Hyun Kang, Shi-Uk Lee, Sang Yoon Lee
    Journal of Clinical Neuroscience.2019; 59: 37.     CrossRef
  • Variations in the distal branches of the superficial fibular sensory nerve
    Shoji Hemmi, Katsumi Kurokawa, Taiji Nagai, Ryutaro Kushida, Toshio Okamoto, Tatsufumi Murakami, Yoshihide Sunada
    Muscle & Nerve.2017; 55(1): 74.     CrossRef
  • Variations in sural nerve formation pattern and distribution on the dorsum of the foot
    Su Kyoung Jeon, Doo‐Jin Paik, Young‐Il Hwang
    Clinical Anatomy.2017; 30(4): 525.     CrossRef
  • Inhibitory effect of IL-17 on neural stem cell proliferation and neural cell differentiation
    Zichen Li, Ke Li, Lin Zhu, Quancheng Kan, Yaping Yan, Priyanka Kumar, Hui Xu, Abdolmohamad Rostami, Guang-Xian Zhang
    BMC Immunology.2013;[Epub]     CrossRef
  • 16,697 View
  • 171 Download
  • 5 Crossref
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