期刊
BMC MEDICAL GENETICS
卷 18, 期 -, 页码 -出版社
BMC
DOI: 10.1186/s12881-016-0364-5
关键词
Macular dystrophy; CDH3; Hypotrichosis; Syndromic retinal dystrophy; Case report
资金
- FEDER (European Regional Development Fund), Fondo de Investigacion Sanitaria -FIS- [13/00226]
- Centre for Biomedical Network Research on Rare Diseases -CIBERER- [06/07/0036]
- Biobank of University Hospital Fundacion Jimenez Diaz Hospital [PT13/0010/0012]
- ONCE (Organizacion Nacional de Ciegos Espanoles)
- Miguel Servet Grant [CP13/03256]
- Sara Borrell Grant [CD13-00085]
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-Fundacion Jimenez Diaz). 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.
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