Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders

被引：4

作者：

Piane, Maria ^{[1
]}

Molinaro, Anna ^{[2
,3
]}

Soresina, Annarosa ^{[3
,4
]}

Costa, Silvia ^{[2
,3
]}

Maffeis, Marianna ^{[3
,4
]}

Germani, Aldo ^{[1
]}

Pinelli, Lorenzo ^{[5
]}

Meschini, Roberta ^{[6
]}

Plebani, Alessandro ^{[3
,4
]}

Chessa, Luciana ^{[1
]}

Michell, Roberto ^{[2
,3
]}

机构：

[1] Univ Roma La Sapienza, Dept Clin & Mol Med, Rome, Italy

[2] Spedali Civil Brescia, Unit Child Neurol & Psychiat, Brescia, Italy

[3] Univ Brescia, Brescia, Italy

[4] Spedali Civil Brescia, Dept Pediat, Brescia, Italy

[5] Spedali Civil Brescia, Dept Neuroradiol, Brescia, Italy

[6] Univ Tuscia, Dept Ecol & Biol Sci, Viterbo, Italy

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2016年 / 371卷

关键词：

Ataxia-Telangiectasia; Low-grade cerebellar astrocytoma; Ischemic stroke; ATM gene; ATM GENE; CANCER;

D O I：

10.1016/j.jns.2016.10.014

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report the case of a 6-year-old female patient with Ataxia Telangiectasia, an extremely rare condition, who developed in addition a left cerebellar astrocytoma and a right cerebellar infarction, considered as two independent events. Children with AT have an increased risk of developing cancer, but only few cases of glioma are reported and, at our knowledge, no other case of unrelated cerebellar glioma and cerebellar infarction in with the same AT patient have been described. The molecular analysis of ATM (Ataxia Telangiectasia Mutated) gene showed that the patient is compound heterozygote for two previously unreported mutations: c.3291deIC (p.Phe1097fs) at exon 25 and c.8198A>C (p.G1n2733Pro) at exon 58. The role of the identified ATM gene mutations in the pathogenesis of Ataxia Telangiectasia and the coexisting cerebellar disorders is discussed. (C) 2016 Elsevier B.V. All rights reserved.

引用

页码：48 / 53

页数：6

共 18 条

[1] Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer [J].

Bernstein, JL ;

Teraoka, S ;

Haile, RW ;

Borresen-Dale, AL ;

Rosenstein, BS ;

Gatti, RA ;

Diep, AT ;

Jansen, L ;

Atencio, DR ;

Olsen, JH ;

Bernstein, L ;

Teitelbaum, SL ;

Thompson, WD ;

Concannon, P .

HUMAN MUTATION, 2003, 21 (05) :542-550

[2]

Boder E, 1985, Kroc Found Ser, V19, P1

[3] Ataxia-telangiectasia: future prospects [J].

Chaudhary, Mohammed Wajid ;

Al-Baradie, Raidah Saleem .

APPLICATION OF CLINICAL GENETICS, 2014, 7 :159-167

[4]

Choi M., 2016, MOL CANC THER, V13

[5] Childhood colon cancer in a patient with ataxia telangiectasia [J].

Jo, Kyeong Min ;

Yang, Sung Yeun ;

Park, Jong Ha ;

Kim, Tae Oh ;

Jeong, Heui Jeong ;

Heo, Chang Min ;

Jang, Ji Hoon ;

Hur, So Chong ;

Jeong, Na Ri ;

Jeong, Su Jin ;

Seol, Sang Hoon ;

Nam, Kyung Han .

ANNALS OF TRANSLATIONAL MEDICINE, 2016, 4 (01)

[6] ATM prevents DSB formation by coordinating SSB repair and cell cycle progression [J].

Khoronenkova, Svetlana V. ;

Dianov, Grigory L. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2015, 112 (13) :3997-4002

[7] Ataxia-telangiectasia complicated by craniopharyngioma - A new observation [J].

Masri, Amira T. ;

Bakri, Faris G. ;

Al-Hadidy, Azmy M. ;

Musharbash, Awni F. ;

Al-Hussaini, Maisa .

PEDIATRIC NEUROLOGY, 2006, 35 (04) :287-288

[8]

Mavrou A, 2008, ANTICANCER RES, V28, P401

[9] Ataxia-telangiectasia, cancer and the pathobiology of the ATM gene [J].

Meyn, MS .

CLINICAL GENETICS, 1999, 55 (05) :289-304

[10] ASTROCYTOMA LINKED TO FAMILIAL ATAXIA-TELANGIECTASIA [J].

MIYAGI, K ;

MUKAWA, J ;

KINJO, N ;

HORIKAWA, K ;

MEKARU, S ;

NAKASONE, S ;

KOGA, H ;

HIGA, Y ;

NAITO, M .

ACTA NEUROCHIRURGICA, 1995, 135 (1-2) :87-92

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