学术探索
学术期刊
新闻热点
数据分析
智能评审

PHOX2B mutation-confirmed congenital central hypoventilation syndrome -: Presentation in adulthood

被引：86
作者：
Antic, Nick A.
Mallow, Beth A.
Lange, Neale
McEvoy, R. Doug
Olson, Amy L.
Turkington, Peter
Windisch, Wolfram
Samuels, Martin
Stevens, Cathy A.
Berry-Kravis, Elizabeth M.
Weese-Mayer, Debra E. [5 ]
机构：
[1] Repatriat Gen Hosp, Adelaide Inst Sleep Hlth, Daw Pk, SA, Australia
[2] Vanderbilt Univ, Med Ctr, Dept Neurol, Sleep Disorders Div, Nashville, TN USA
[3] TC Thompson Childrens Hosp, Dept Pediat, Chattanooga, TN USA
[4] Univ Colorado, Hlth Sci Ctr, Div Pulm Sci & Crit Care Med, Denver, CO 80202 USA
[5] Rush Univ, Med Ctr, Dept Pediat, Div Pediat Resp Med, Chicago, IL 60612 USA
[6] Rush Univ, Med Ctr, Dept Pediat Neurol & Biochem, Chicago, IL 60612 USA
[7] Salford Royal Hosp, NHS Trust Hope Hosp, Salford, Lancs, England
[8] Univ Hosp N Staffordshire, Stoke On Trent, Staffs, England
[9] Univ Hosp, Dept Resp Med, Freiburg, Germany
来源：
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE | 2006年 / 174卷 / 08期
关键词：
congenital central hypoventilation syndrome; PHOX2B gene;
D O I：
10.1164/rccm.200605-607CR
中图分类号：
R4 [临床医学];
学科分类号：
1002 ; 100602 ;
摘要：
Congenital central hypoventilation syndrome (CCHS) typically presents in the newborn period. A case series of five adults is presented, each heterozygous for a documented polyalanine expansion mutation in the PHOX2B gene and evidence of nocturnal alveolar hypoventilation. All cases had symptoms in childhood, but survived to adulthood without ventilatory support. After identification of physiologic compromise, artificial ventilation was initiated. These adults have the mildest of the CCHS-related PHOX2B polyalanine expansion mutations, coding for only five extra alanines; three of the adults have affected offspring. Report of these cases should lead to a more rapid identification of CCHS presenting in adulthood.
引用
收藏
页码：923 / 927
页数：5
相关论文
共 13 条
[1]   Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome [J].
Amiel, J ;
Laudier, B ;
Attié-Bitach, T ;
Trang, H ;
de Pontual, L ;
Gener, B ;
Trochet, D ;
Etchevers, H ;
Ray, P ;
Simonneau, M ;
Vekemans, M ;
Munnich, A ;
Gaultier, C ;
Lyonnet, S .
NATURE GENETICS, 2003, 33 (04) :459-461
[2]   Primary alveolar hypoventilation and response to the respiratory stimulant almitrine [J].
Antic, N ;
McEvoy, RD .
INTERNAL MEDICINE JOURNAL, 2002, 32 (12) :622-U2
[3]   Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome [J].
Bachetti, T ;
Matera, I ;
Borghini, S ;
Di Duca, M ;
Ravazzolo, R ;
Ceccherini, I .
HUMAN MOLECULAR GENETICS, 2005, 14 (13) :1815-1824
[4]  
BERRYKRAVIS EM, AM J RESP CRIT CARE
[5]   PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome [J].
Matera, I ;
Bachetti, T ;
Puppo, F ;
Di Duca, M ;
Morandi, F ;
Casiraghi, GM ;
Cilio, MR ;
Hennekam, R ;
Hofstra, R ;
Schöber, JG ;
Ravazzolo, R ;
Ottonello, G ;
Ceccherini, I .
JOURNAL OF MEDICAL GENETICS, 2004, 41 (05) :373-380
[6]   Molecular analysis of congenital central hypoventilation syndrome [J].
Sasaki, A ;
Kanai, M ;
Kijima, K ;
Akaba, K ;
Hashimoto, M ;
Hasegawa, H ;
Otaki, S ;
Koizumi, T ;
Kusuda, S ;
Ogawa, Y ;
Tuchiya, K ;
Yamamoto, W ;
Nakamura, T ;
Hayasaka, K .
HUMAN GENETICS, 2003, 114 (01) :22-26
[7]   Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction [J].
Trochet, D ;
Hong, SJ ;
Lim, JK ;
Brunet, JF ;
Munnich, A ;
Kim, KS ;
Lyonnet, S ;
Goridis, C ;
Amiel, J .
HUMAN MOLECULAR GENETICS, 2005, 14 (23) :3697-3708
[8]   PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome [J].
Trochet, D ;
O'Brien, LM ;
Gozal, D ;
Trang, H ;
Nordenskjöld, A ;
Laudier, B ;
Svensson, PJ ;
Uhrig, S ;
Cole, T ;
Munnich, A ;
Gaultier, C ;
Lyonnet, S ;
Amiel, J .
AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 76 (03) :421-426
[9]   In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome [J].
Weese-Mayer, DE ;
Berry-Kravis, EM ;
Marazita, ML .
RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY, 2005, 149 (1-3) :73-82
[10]   Adult identified with congenital central hypoventilation syndrome-mutation in PHOX2b gene and late-onset CHS [J].
Weese-Mayer, DE ;
Berry-Kravis, EM ;
Zhou, LL .
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2005, 171 (01) :88-88
12