Premium
Could a patient with SMC1A duplication be classified as a human cohesinopathy?
Author(s) -
BaqueroMontoya C.,
GilRodríguez M.C.,
TeresaRodrigo M.E.,
HernándezMarcos M.,
BuenoLozano G.,
BuenoMartínez I.,
Remeseiro S.,
FernándezHernández R.,
BassecourtSerra M.,
Rodríguez de Alba M.,
Queralt E.,
Losada A.,
Puisac B.,
Ramos F.J.,
Pié J.
Publication year - 2014
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12194
Subject(s) - cornelia de lange syndrome , gene duplication , genetics , biology , intellectual disability , craniofacial abnormality , craniofacial , cohesin , developmental disorder , phenotype , gene , chromosome , autism , medicine , psychiatry
The disorders caused by mutations in genes encoding subunits and accessory proteins of cohesin complex are collectively termed as cohesinopathies. The best known cohesinopathy is Cornelia de Lange Syndrome ( CdLS ), which is a multisystem developmental disorder characterized by facial dysmorphism, limb malformations, growth and cognitive impairment. Mutations in five genes, encoding subunits of the cohesin complex ( SMC1A , SMC3 , RAD21 ) and its regulators ( NIPBL , HDAC8 ), are responsible for ∼70% of CdLS cases. We describe a 16‐year‐old boy with facial dysmorphism, growth retardation, intellectual disability, hirsutism and small hands, who has a small Supernumerary Marker Chromosome ( sSMC ) present in mosaic form. sSMC is composed of two duplicated segments encompassing 17 genes including SMC1A gene, at the regions Xp11.22 and Xp11.21q11.1. Clinical comparison between our patient with a previously reported individual with a SMC1A duplication and four male carriers of similar sSMC reported in databases, suggest that they all share clinical features related to cohesinopathies. Although our patient does not have the classical CdLS craniofacial phenotype, he has pre and postnatal growth retardation, intellectual disability and mild musculoskeletal anomalies, features commonly seen in patients with cohesinopathies.