Lethal Netherton Syndrome Due to Homozygous p.Arg371X Mutation in SPINK5

被引：9

作者：

Diociaiuti, Andrea ^{[1
]}

Castiglia, Daniele ^{[2
]}

Fortugno, Paola ^{[1
]}

Bartuli, Andrea ^{[3
]}

Pascucci, Monica ^{[2
]}

Zambruno, Giovanna ^{[2
]}

El Hachem, May ^{[1
]}

机构：

[1] Bambino Gesu Pediat Hosp, IRCCS, Dermatol Unit, I-00165 Rome, Italy

[2] IRCCS, Ist Dermopat Immacolata, Lab Mol & Cell Biol, Rome, Italy

[3] Bambino Gesu Pediat Hosp, IRCCS, Rare Dis Unit, I-00165 Rome, Italy

来源：

PEDIATRIC DERMATOLOGY | 2013年 / 30卷 / 04期

关键词：

EXPRESSION;

D O I：

10.1111/pde.12076

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Here we report a lethal case of Netherton syndrome presenting with neurologic complications, hypernatremic dehydration, failure to thrive, and episodes of sepsis. Molecular analysis of the serine protease inhibitor Kazal-type 5 gene identified a homozygous mutation (c.1111C>T, p.Arg371X). This case highlights the importance of early diagnosis to start appropriate care in a timely fashion and prevent disease complications.

引用

页码：E65 / E67

页数：3

共 8 条

[1] Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis [J].

Bitoun, E ;

Bodemer, C ;

Amiel, J ;

de Prost, Y ;

Stoll, C ;

Calvas, P ;

Hovnanian, A .

PRENATAL DIAGNOSIS, 2002, 22 (02) :121-126

[2] Netherton syndrome:: Disease expression and spectrum of SPINK5 mutations in 21 families [J].

Bitoun, E ;

Chavanas, S ;

Irvine, AD ;

Lonie, L ;

Bodemer, C ;

Paradisi, M ;

Hamel-Teillac, D ;

Ansai, S ;

Mitsuhashi, Y ;

Taïeb, A ;

de Prost, Y ;

Zambruno, G ;

Harper, JI ;

Hovnanian, A .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2002, 118 (02) :352-361

[3] A lethal variant of Netherton syndrome in a large inbred family [J].

Capri, Y. ;

Vanlieferinghen, P. ;

Boeuf, B. ;

Dechelotte, P. ;

Hovnanian, A. ;

Lecomte, B. .

ARCHIVES DE PEDIATRIE, 2011, 18 (03) :294-298

[4] Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome [J].

Chavanas, S ;

Bodemer, C ;

Rochat, A ;

Hamel-Teillac, D ;

Ali, M ;

Irvine, AD ;

Bonafé, JL ;

Wilkinson, J ;

Taïeb, A ;

Barrandon, Y ;

Harper, JI ;

de Prost, Y ;

Hovnanian, A .

NATURE GENETICS, 2000, 25 (02) :141-142

[5] New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome [J].

Fong, K. ;

Akdeniz, S. ;

Isi, H. ;

Taskesen, M. ;

McGrath, J. A. ;

Lai-Cheong, J. E. .

CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2011, 36 (04) :412-415

[6] Clinical Expression and New SPINK5 Splicing Defects in Netherton Syndrome: Unmasking a Frequent Founder Synonymous Mutation and Unconventional Intronic Mutations [J].

Lacroix, Matthieu ;

Lacaze-Buzy, Laetitia ;

Furio, Laetitia ;

Tron, Elodie ;

Valari, Manthoula ;

Van der Wier, Gerda ;

Bodemer, Christine ;

Bygum, Anette ;

Bursztejn, Anne-Claire ;

Gaitanis, George ;

Paradisi, Mauro ;

Stratigos, Alexander ;

Weibel, Lisa ;

Deraison, Celine ;

Hovnanian, Alain .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2012, 132 (03) :575-582

[7] Hypernatremia and grade III/IV intraventricular hemorrhage among extremely low birth weight infants [J].

Lim, W-H ;

Lien, R. ;

Chiang, M-C ;

Fu, R-H ;

Lin, J-J ;

Chu, S-M ;

Hsu, J-F ;

Yang, P-H .

JOURNAL OF PERINATOLOGY, 2011, 31 (03) :193-198

[8]

Stoll C, 2011, GENET COUNSEL, V12, P237

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