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

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BMC Medical Genetics

, 18:1

Clinical-Molecular Genetics and Cytogenetics


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.

KeywordsMacular dystrophy CDH3 Hypotrichosis Syndromic retinal dystrophy Case report AbbreviationsBEBoth eyes

EEMEctodermal dysplasia, ectrodactyly and macular dystrophy

HJMDHypotrichosis with juvenile macular dystrophy

LELeft eye

MLPAmultiplex ligation-dependent probe amplification

RDRetinal dystrophy

RERight eye

SHFMsplit hand-foot malformation

VAVisual acuity

VEPVisual evoked potentials

VFVisual field


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Autor: Fiona Blanco-Kelly - Luciana Rodrigues-Jacy da Silva - Iker Sanchez-Navarro - Rosa Riveiro-Alvarez - Miguel Angel Lopez-Mart


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