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Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population.
Nartisa, Inga; Kirsteina, Rasa; Neiburga, Katrina Daila; Zigure, Sanita; Ozola, Lota; Grantina, Ineta; Micule, Ieva; Murmane, Daiga; Slisere, Baiba; Gailite, Linda; Vilne, Baiba; Rots, Dmitrijs; Taurina, Gita; Kurjane, Natalja.
Afiliación
  • Nartisa I; Riga Stradins University, Riga, Latvia.
  • Kirsteina R; Children's Clinical University Hospital, Riga, Latvia.
  • Neiburga KD; Clinic for Medical Genetics and Prenatal Diagnosis, Children's Clinical University Hospital, Riga, Latvia.
  • Zigure S; Riga Stradins University, Riga, Latvia.
  • Ozola L; Riga Stradins University, Riga, Latvia.
  • Grantina I; Children's Clinical University Hospital, Riga, Latvia.
  • Micule I; Children's Clinical University Hospital, Riga, Latvia.
  • Murmane D; Children's Clinical University Hospital, Riga, Latvia.
  • Slisere B; Clinic for Medical Genetics and Prenatal Diagnosis, Children's Clinical University Hospital, Riga, Latvia.
  • Gailite L; Clinic for Medical Genetics and Prenatal Diagnosis, Children's Clinical University Hospital, Riga, Latvia.
  • Vilne B; Riga Stradins University, Riga, Latvia.
  • Rots D; Pauls Stradins Clinical University Hospital, Riga, Latvia.
  • Taurina G; Riga Stradins University, Riga, Latvia.
  • Kurjane N; Riga Stradins University, Riga, Latvia.
Pediatr Allergy Immunol ; 34(4): e13937, 2023 04.
Article en En | MEDLINE | ID: mdl-37102386
OBJECTIVE: Netherton syndrome (NS) (OMIM:256500) is a very rare autosomal recessive multisystem disorder mostly affecting ectodermal derivatives (skin and hair) and immune system. It is caused by biallelic loss-of-function variants in the SPINK5 gene, encoding the protease inhibitor lymphoepithelial Kazal-type-related inhibitor (LEKTI). MATERIAL, METHODS AND RESULTS: Here, we describe NS clinical and genetic features of homogenous patient group: 9 individuals from 7 families with similar ethnic background and who have the same SPINK5 variant (NM_006846.4: c.1048C > T, p.(Arg350*)) in homozygous or compound heterozygous states, suggesting that it is a common founder variant in Latvian population. Indeed, we were able to show that the variant is common in general Latvian population, and it shares the same haplotype among the NS individual. It is estimated that the variant arose >1000 years ago. Clinically, all nine patients exhibited typical NS skin changes (scaly erythroderma, ichthyosis linearis circumflexa, itchy skin), except for one patient who has a different skin manifestation-epidermodysplasia. Additionally, we show that developmental delay, previously underrecognized in NS, is a common feature among these patients. CONCLUSIONS: This study shows that the phenotype of NS individuals with the same genotype is highly homogeneous.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Netherton Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Pediatr Allergy Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA / PEDIATRIA Año: 2023 Tipo del documento: Article País de afiliación: Letonia Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Netherton Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Pediatr Allergy Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA / PEDIATRIA Año: 2023 Tipo del documento: Article País de afiliación: Letonia Pais de publicación: Reino Unido