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Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7
Author(s) -
ZechiCeide Roseli Maria,
Rodrigues Melina Guerreiro,
Jehee Fernanda Sarquis,
KokitsuNakata Nancy Mizue,
PassosBueno Maria Rita,
GuionAlmeida Maria Leine
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35367
Subject(s) - phenotype , biology , genetics , synostosis , gene duplication , ptosis , gene , pharmacology
The authors describe on a Brazilian girl with coronal synostosis, facial asymmetry, ptosis, brachydactyly, significant learning difficulties, recurrent scalp infections with marked hair loss, and elevated serum immunoglobulin E. Standard lymphocyte karyotype showed a small additional segment in 7p21[46,XX,add(7)(p21)]. Deletion of the TWIST1 gene, detected by Multiplex Ligation Probe‐dependent Amplification (MPLA) and array‐CGH, was consistent with phenotype of Saethre–Chotzen syndrome. Array CGH also showed deletion of four other genes at 7p21.1 ( SNX13 , PRPS1L1 , HD9C9 , and FERD3L ) and the deletion of six genes ( CACNA2D2 , C3orf18 , HEMK1 , CISH , MAPKAPK3 , and DOCK3 ) at 3p21.31. Our case reinforces FERD3L as candidate gene for intellectual disability and suggested that genes located in 3p21.3 can be related to hyper IgE phenotype. © 2012 Wiley Periodicals, Inc.