[PMID]: | 28061825 |
[Au] Autor: | Blanco-Kelly F; Rodrigues-Jacy da Silva L; Sanchez-Navarro I; Riveiro-Alvarez R; Lopez-Martinez MA; Corton M; Ayuso C |
[Ad] Endereço: | Department of Medical Genetics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz, (IIS-FJD, UAM), Madrid, Spain. |
[Ti] Título: | New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report. |
[So] Source: | BMC Med Genet;18(1):1, 2017 Jan 07. |
[Is] ISSN: | 1471-2350 |
[Cp] País de publicação: | England |
[La] Idioma: | eng |
[Ab] Resumo: | BACKGROUND: CDH3 on 16q22.1 is responsible for two rare autosomal recessive disorders with hypotrichosis and progressive macular dystrophy: Hypotrichosis with Juvenile Macular Dystrophy and Ectodermal Dysplasia, Ectrodactyly and Macular Dystrophy. We present a new case of Hypotrichosis with Juvenile Macular Dystrophy. CASE PRESENTATION: A Spanish male born in 1998 from non-consanguineous healthy parents with a suspected diagnosis of Keratosis Follicularis Spinulosa Decalvans and Retinitis Pigmentosa Inversa referred to our Genetics Department (IIS-Fundación Jiménez Díaz). Molecular study of ABCA4 was performed, and a heterozygous missense p.Val2050Leu variant in ABCA4 was found. Clinical revision reclassified this patient as Hypotrichosis with Juvenile Macular Dystrophy. Therefore, further CDH3 sequencing was performed showing a novel maternal missense change p.Val205Met (probably pathogenic by in silico analysis), and a previously reported paternal frameshift c.830del;p.Gly277Alafs*20, thus supporting the clinical diagnosis.. CONCLUSIONS: This is not only the first Spanish case with this clinical and molecular diagnosis, but a new mutation has been described in CDH3. Moreover, this work reflects the importance of joint assessment of clinical signs and evaluation of pedigree for a correct genetic study approach and diagnostic. |
[Mh] Termos MeSH primário: |
Caderinas/genética Hipotricose/congênito Degeneração Macular/genética
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[Mh] Termos MeSH secundário: |
Transportadores de Cassetes de Ligação de ATP/genética Seres Humanos Hipotricose/genética Masculino Mutação Linhagem Adulto Jovem
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[Pt] Tipo de publicação: | CASE REPORTS; JOURNAL ARTICLE |
[Nm] Nome de substância:
| 0 (ABCA4 protein, human); 0 (CDH3 protein, human); 0 (Cadherins) |
[Em] Mês de entrada: | 1705 |
[Cu] Atualização por classe: | 170518 |
[Lr] Data última revisão:
| 170518 |
[Sb] Subgrupo de revista: | IM |
[Da] Data de entrada para processamento: | 170108 |
[St] Status: | MEDLINE |
[do] DOI: | 10.1186/s12881-016-0364-5 |
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