Complete maternal Isodisomy of chromosome 5 in a Japanese patient with Netherton syndrome

Journal of Investigative Dermatology

Volumn 134, Issue 3, 2014, Pages 849-852

  Numata, Sanae ^a   Hamada, Takahiro ^a   Teye, Kwesi ^a   Matsuda, Mitsuhiro ^a   Ishii, Norito ^a   Karashima, Tadashi ^a   Kabashima, Kenji ^b   Furumura, Minao ^a   Ohata, Chika ^a   Hashimoto, Takashi ^a  

^a KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; GLYCERALDEHYDE 3 PHOSPHATE DEHYDROGENASE; NUCLEOTIDE; PLACENTA PROTEIN 5;

ALLELE; CASE REPORT; CHILD; CHROMOSOME 5; CLINICAL FEATURE; DISEASE SEVERITY; EXON; FATHER; FEMALE; GENE; GENE DELETION; GENE DOSAGE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENOME IMPRINTING; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INTRON; JAPANESE; LETTER; MICROSATELLITE MARKER; MISSENSE MUTATION; MOTHER; NETHERTON DISEASE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCHOOL CHILD; SPINK5 GENE; UNIPARENTAL DISOMY; WILD TYPE; AUTOSOMAL RECESSIVE DISORDER; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; GENETIC COUNSELING; JAPANESE (PEOPLE); TRICHORRHEXIS;

ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHROMOSOMES, HUMAN, PAIR 5; CRI-DU-CHAT SYNDROME; FEMALE; HAPLOTYPES; HUMANS; MOSAICISM; MOTHERS; NETHERTON SYNDROME; PROTEINASE INHIBITORY PROTEINS, SECRETORY; TRISOMY; UNIPARENTAL DISOMY;

EID: 84894105861     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2013.398     Document Type: Letter

References (13)

1. Akagi A, Kitih A, Moniaga C et al. (2013) A case of Netherton syndrome with an elevated serum TARC level. J Dermatol 40:752-33
2. Bitoun E, Chavanas S, Irvine AD et al. (2002) Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol 118:352-611
3. Coan PM, Burton GJ, Ferguson-Smith AC (2005) Imprinted genes in the placenta-A review. Placenta 26(Suppl A):S10-200
4. Engel E (2006) A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements. Eur J Hum Genet 14:1158-699
5. Fassihi H, Lu L, Wessagowit V et al. (2006) Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities. J Invest Dermatol 126:2039-433
6. Kotzot D (2001) Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements. J Med Genet 38:497-5077
7. Kotzot D, Utermann G (2005) Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated. Am J Med Genet A 136:287-3055
8. Lin SP, Huang SY, Tu ME et al. (2007) Netherton syndrome: mutation analysis of two Taiwanese families. Arch Dermatol Res 299:145-500
9. Miozzo M, Simoni G (2002) The role of imprinted genes in fetal growth. Biol Neonate 81: 217-288
10. Robinson WP (2000) Mechanisms leading to uniparental disomy and their clinical consequences. Bioessays 22:452-99
11. Siegel DH, Slavotinek A (2005) Uniparental disomy. Pediatr Dermatol 22:482-77
12. Sun JD, Linden KG (2006) Netherton syndrome: a case report and review of the literature. Int J Dermatol 45:693-77
13. Zlotogora J (2004) Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles. Hum Genet 114:521-66