Open AccessMicrophthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2
Author(s) -
Siulan VendraminiPittoli,
Rosana Maria CandidoSouza,
Rodrigo Gonçalves Quiezi,
Roseli Maria Zechi-Ceide,
Nancy Mizue Kokitsu-Nakata,
Fernanda Sarquis Jehee,
Lucilene Arilho Ribeiro-Bicudo,
David R. FitzPatrick,
Maria Leine GuionAlmeida,
Antônio Richieri-Costa
Publication year - 2020
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0039-3402047
Subject(s) - microphthalmia , short stature , proband , corpus callosum , agenesis , agenesis of the corpus callosum , medicine , craniofacial , coloboma , haploinsufficiency , phenotype , genetics , biology , pathology , pediatrics , mutation , gene
The authors describe the clinical findings observed in a Brazilian girl that are suggestive of microphthalmia and linear skin defects (MLS) also known as MIDAS syndrome (OMIM #309801). She also presented with short stature, agenesis of corpus callosum, cleft palate, enamel defects, and genitourinary anomalies, which are rarely reported within the clinical spectrum of MLS. The 11,5 Mb deletion in Xp22.3p22.2 observed in the patient includes the entire HCCS gene (responsible for the MLS phenotype) and also encompasses several other genes involved with behavioral phenotypes, craniofacial and central nervous system development such as MID1, NLGN4X, AMELX , ARHGAP6, and TBL1X. The whole clinical features of our proband possibly represents an unusual MLS syndromic phenotype caused by an Xp22.3p22.2 continuous gene deletion.