New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report

BMC Medical Genetics

Case Report

Iker Sanchez-Navarro¹  Luciana Rodrigues-Jacy da Silva¹  Miguel Angel Lopez-Martinez¹  Marta Corton²  Fiona Blanco-Kelly²  Rosa Riveiro-Alvarez²  Carmen Ayuso³ 

[1] Department of Medical Genetics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz, (IIS-FJD, UAM), Madrid, Spain;Department of Medical Genetics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz, (IIS-FJD, UAM), Madrid, Spain;Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto Carlos IIII (ISCIII), Madrid, Spain;Department of Medical Genetics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz, (IIS-FJD, UAM), Madrid, Spain;Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto Carlos IIII (ISCIII), Madrid, Spain;Department of Genomics and Genetics, Fundación Jiménez Díaz University Hospital, Av. Reyes Católicos n° 2, 28040, Madrid, Spain;

关键词: Macular dystrophy;    CDH3;    Hypotrichosis;    Syndromic retinal dystrophy;    Case report;   

DOI  :  10.1186/s12881-016-0364-5

 received in 2016-08-26, accepted in 2016-12-21,  发布年份 2017

来源: Springer

【 摘 要 】

BackgroundCDH3 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 presentationA 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..ConclusionsThis 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.

【 授权许可】

CC BY   
© The Author(s). 2017