Dataset Information

Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2.

ABSTRACT: 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.

SUBMITTER: Vendramini-Pittoli S

PROVIDER: S-EPMC7396461 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature

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Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2.

Vendramini-Pittoli Siulan S Candido-Souza Rosana Maria RM Quiezi Rodrigo Gonçalves RG Zechi-Ceide Roseli Maria RM Kokitsu-Nakata Nancy Mizue NM Jehee Fernanda Sarquis FS Ribeiro-Bicudo Lucilene Arilho LA FitzPatrick David R DR Guion-Almeida Maria Leine ML Richieri-Costa Antonio A

Journal of pediatric genetics 20200103 4

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 <i>HCCS</i> gene (responsible for the MLS phe ...[more]

PMID: 32765930

Dataset Information

Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2.

Publications

Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2.

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