A novel mutation in ITGB4 gene in a newborn with epidermolysis bullosa, pyloric atresia, and aplasia cutis congenita

OKULU E., Durmaz C. D., TUNÇ G., KUTLAY N., ERDEVE Ö., ATASAY F. B., ...Daha Fazla

Egyptian Journal of Medical Human Genetics, cilt.21, ss.16, 2020 (ESCI) identifier identifier

  • Yayın Türü: Makale / Vaka Takdimi
  • Cilt numarası: 21
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1186/s43042-020-00055-7
  • Dergi Adı: Egyptian Journal of Medical Human Genetics
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, Arab World Research Source, EMBASE, Directory of Open Access Journals
  • Sayfa Sayıları: ss.16
  • Anahtar Kelimeler: Epidermolysis bullosa, Carmi syndrome, Integrin alpha 6, Integrin beta 4, INTEGRIN, DIAGNOSIS, LETHAL
  • Sivas Cumhuriyet Üniversitesi Adresli: Evet

Özet

Background Epidermolysis bullosa with pyloric atresia (EB-PA), also known as Carmi syndrome, is an uncommon, autosomal recessive genodermatosis that typically affects the skin and gastrointestinal tract. EB-PA is caused by homozygous or compound heterozygous mutations in the integrin alpha 6 (ITGA6) gene on chromosome 2q31.1 or in the integrin beta 4 (ITGB4) gene on 17q25.1. Case presentation A male premature infant was born with aplasia cutis, atresia of the pylorus, and bilateral hydronephrosis. His clinical and imaging findings were compatible with EB-PA. A novel, small deletion of the last two bases in exon 6 and the first two nucleotides of intron 6 (c.565_566+2del) in ITGB4 gene was identified. Conclusion EB-PA-aplasia cutis congenita is known to be a non-treatable condition with a poor prognosis as the reported case. The novel mutation reported in this patient may lead to the lethal form of this disease. Identification of underlying genetic abnormality is critical to give genetic counseling.