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The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM‐PL): Report of two additional patients
Author(s) -
Shaheen Ranad,
AlSalam Zakariya,
ElHattab Ayman W.,
Alkuraya Fowzan S.
Publication year - 2016
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.37877
Subject(s) - microcephaly , polydactyly , lissencephaly , medicine , renal agenesis , pediatrics , agenesis , agenesis of the corpus callosum , frameshift mutation , dermatology , genetics , mutation , anatomy , biology , corpus callosum , kidney , gene
We have recently described a newly recognized syndromic form of congenital microcephaly as part of a large cohort of apparently novel dysmorphic syndromes. The reported Saudi Arabian patients have severe primary microcephaly, ambiguous male genitalia, dysmorphic facies, polydactyly, and renal agenesis. The same homozygous CTU2 mutation was identified in all patients. Although the nucleotide change c.873G>A does not change the codon, it completely abolishes a consensus donor site resulting in frameshift and premature truncation ((NM_001012762.1): p.Thr247Alafs*21). In this report, we describe two cousins from United Arab Emirates whose clinical presentation was consistent with this recently described syndrome and both were found to have the same mutation on the same haplotypic background. We propose the acronym DREAM‐PL to highlight the main clinical features of this syndrome, which we believe is underdiagnosed by exome sequencing based on the high carrier frequency, most likely due to the apparently synonymous nature of the mutation. © 2016 Wiley Periodicals, Inc.