Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375-376delAT

Journal of Dermatology

Volumn 42, Issue 12, 2015, Pages 1212-1214

  Itoh, Katsuhiko ^a,c   Kako, Tomoko ^a   Suzuki, Naofumi ^a,d   Sakurai, Naoto ^a   Sugiyama, Kenji ^a   Yamanishi, Kiyofumi ^b  

^a National Hospital Organization   (Japan)

^b HYOGO COLLEGE OF MEDICINE   (Japan)

^c Miechuo Medical Center   (Japan)

^d Mie Graduate School of Medicine   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; HABEKACIN; MEROPENEM; PETROLATUM; LEUKOCYTE ELASTASE INHIBITOR; SPINK5 PROTEIN, HUMAN;

ALOPECIA; BACTERIUM IDENTIFICATION; BODY WEIGHT DISORDER; CASE REPORT; CLINICAL FEATURE; DISEASE SEVERITY; DISSEMINATED INTRAVASCULAR CLOTTING; ENTERIC FEEDING; ERYTHRODERMA; EXON; GENE; GENE MUTATION; GROWTH RETARDATION; HOMOZYGOSITY; HUMAN; HYPERNATREMIA; IMMUNOHISTOCHEMISTRY; JAPANESE (PEOPLE); LETTER; MALE; METHICILLIN RESISTANT STAPHYLOCOCCUS AUREUS; NETHERTON DISEASE; NEWBORN; PANCREAS INSUFFICIENCY; PHENOTYPE; PSEUDOMONAS; SERRATIA INFECTION; SPINK5 GENE; TRICHORRHEXIS; XERODERMA; ZINC DEFICIENCY; ASIAN CONTINENTAL ANCESTRY GROUP; FATALITY; GENETICS; HOMOZYGOTE; INFANT; JAPAN; MUTATION;

ASIAN CONTINENTAL ANCESTRY GROUP; FATAL OUTCOME; HOMOZYGOTE; HUMANS; INFANT; JAPAN; MALE; MUTATION; NETHERTON SYNDROME; PHENOTYPE; PROTEINASE INHIBITORY PROTEINS, SECRETORY;

EID: 84955193957     PISSN: 03852407     EISSN: 13468138     Source Type: Journal    
DOI: 10.1111/1346-8138.13090     Document Type: Letter

References (5)

1. Bitoun E, Chavanas S, Irvine AD, et al,. Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol 2002; 118: 352-361.
2. Komatsu N, Saijoh K, Jayakumar A, et al,. Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients. J Invest Dermatol 2008; 128: 1148-1159.
3. Konishi T, Tsuda T, Sakaguchi Y, et al,. Upregulation of interleukin-33 in the epidermis of two Japanese patients with Netherton syndrome. J Dermatol 2014; 41: 258-261.
4. Israeli S, Sarig O, Garty BZ, et al,. Molecular analysis of a series of Israeli families with Comel-Netherton syndrome. Dermatology 2014; 228: 183-188.
5. Sims D, Sudbery I, Ilott NE, et al,. Sequencing depth and coverage: key considerations in genomic analyses. Nat Rev Genet 2014; 15: 121-132.