Congenital myopathy, recurrent secretory diarrhea, bullous eruption of skin, microcephaly, and deafness: A new genetic syndrome?

被引：2
作者：
Levy, J
Chung, W
Garzon, M
Gallagher, MP
Oberfield, SE
Lieber, E
Anyane-Yeboa, K
机构：
[1] Columbia Univ, Dept Pediat, New York, NY 10027 USA
[2] Columbia Univ, Dept Dermatol, New York, NY 10027 USA
[3] Methodist Hosp, Dept Med, New York, NY USA
[4] Methodist Hosp, Dept Pediat, New York, NY USA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2003年 / 116A卷 / 01期
关键词：
autosomal recessive; secretory diarrhea; myopathy; deafness; zinc deficiency; blistering skin; PHOSPHOMANNOSE ISOMERASE DEFICIENCY; SERUM ALKALINE-PHOSPHATASE; EPIDERMOLYSIS-BULLOSA; ZINC-DEFICIENCY; GLYCOPROTEIN SYNDROME; ALKALOSIS; SIMPLEX; MUTATIONS; PLEC1;
D O I：
10.1002/ajmg.a.10072
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We describe three siblings with congenital myopathy, bullous eruption of the skin, secretory diarrhea, apparent zinc deficiency, failure to thrive, deafness, and microcephaly. The parents are not consanguineous and there are no other affected relatives. This new syndrome, which follows an apparent autosomal recessive pattern, appears to be distinct from known syndromes of secretory diarrhea, myopathy, deafness, microcephaly, and zinc deficiency. (C) 2003 Wiley-Liss, Inc.
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页码：20 / 25
页数：6
相关论文
共 25 条
[1]   Proton-pump inhibition of gastric chloride secretion in congenital chloridorrhea [J].
Aichbichler, BW ;
Zerr, CH ;
SantaAna, CA ;
Porter, JL ;
Fordtran, JS .
NEW ENGLAND JOURNAL OF MEDICINE, 1997, 336 (02) :106-109
[2]  
BOOTH IW, 1985, LANCET, V1, P1066
[3]   A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy [J].
Chavanas, S ;
Pulkkinen, L ;
Gache, Y ;
Smith, FJD ;
McLean, WHI ;
Uitto, J ;
Ortonne, JP ;
Meneguzzi, G .
JOURNAL OF CLINICAL INVESTIGATION, 1996, 98 (10) :2196-2200
[4]   CONGENITAL ALKALOSIS WITH DIARRHEA [J].
DARROW, DC .
JOURNAL OF PEDIATRICS, 1945, 26 (06) :519-532
[5]   AUTOSOMAL RECESSIVE EPIDERMOLYSIS BULLOSA SIMPLEX - GENERALIZED PHENOTYPIC FEATURES SUGGESTIVE OF JUNCTIONAL OR DYSTROPHIC EPIDERMOLYSIS BULLOSA, AND ASSOCIATION WITH NEUROMUSCULAR DISEASES [J].
FINE, JD ;
STENN, J ;
JOHNSON, L ;
WRIGHT, T ;
BOCK, HGO ;
HORIGUCHI, Y .
ARCHIVES OF DERMATOLOGY, 1989, 125 (07) :931-938
[6]  
GAMBLE JL, 1945, J PEDIATR-US, V26, P509, DOI 10.1016/S0022-3476(45)80078-1
[7]   INTRACTABLE INFANT DIARRHEA ASSOCIATED WITH PHENOTYPIC ABNORMALITIES AND IMMUNODEFICIENCY [J].
GIRAULT, D ;
GOULET, O ;
LEDEIST, F ;
BROUSSE, N ;
COLOMB, V ;
CESARINI, JP ;
DEPOTTER, S ;
CANIONI, D ;
GRISCELLI, C ;
FISCHER, A ;
RICOUR, C .
JOURNAL OF PEDIATRICS, 1994, 125 (01) :36-42
[8]   CONGENITAL ALKALOSIS WITH DIARRHEA - SEQUEL TO DARROWS ORIGINAL DESCRIPTION [J].
GORDEN, P ;
LEVITIN, H .
ANNALS OF INTERNAL MEDICINE, 1973, 78 (06) :876-882
[9]  
HOGLUND P, 1994, AM J HUM GENET, V55, P747
[10]   Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea [J].
Hoglund, P ;
Haila, S ;
Socha, J ;
Tomaszewski, L ;
SaarialhoKere, U ;
KarjalainenLindsberg, ML ;
Airola, K ;
Holmberg, C ;
delaChapelle, A ;
Kere, J .
NATURE GENETICS, 1996, 14 (03) :316-319
123